A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641602



Internal ID6681687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3568888..3571728hg38UCSC Ensembl
Innerchr18:3569038..3571578hg38UCSC Ensembl
Outerchr18:3568738..3571878hg38UCSC Ensembl
chr18:3568886..3571726hg19UCSC Ensembl
Innerchr18:3569036..3571576hg19UCSC Ensembl
Outerchr18:3568736..3571876hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382841
hg192841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15779536, essv15779579, essv15779517, essv15779519, essv15779558, essv15779515, essv15779590, essv15779595, essv15779589, essv15779577, essv15779635, essv15779626, essv15779662, essv15779523, essv15779533, essv15779560, essv15779588, essv15779525, essv15779582, essv15779649, essv15779654, essv15779573, essv15779656, essv15779548, essv15779629, essv15779636, essv15779527, essv15779625, essv15779622, essv15779554, essv15779628, essv15779618, essv15779565, essv15779621, essv15779522, essv15779584, essv15779570, essv15779580, essv15779613, essv15779620, essv15779535, essv15779543, essv15779550, essv15779555, essv15779529, essv15779614, essv15779520, essv15779603, essv15779556, essv15779538, essv15779563, essv15779564, essv15779568, essv15779646, essv15779632, essv15779594, essv15779650, essv15779569, essv15779534, essv15779532, essv15779557, essv15779561, essv15779524, essv15779642, essv15779607, essv15779601, essv15779609, essv15779619, essv15779644, essv15779528, essv15779537, essv15779604, essv15779600, essv15779610, essv15779624, essv15779641, essv15779526, essv15779586, essv15779659, essv15779539, essv15779627, essv15779652, essv15779631, essv15779638, essv15779602, essv15779576, essv15779581, essv15779637, essv15779541, essv15779530, essv15779643, essv15779648, essv15779660, essv15779608, essv15779639, essv15779657, essv15779645, essv15779540, essv15779545, essv15779596, essv15779616, essv15779597, essv15779651, essv15779552, essv15779605, essv15779542, essv15779559, essv15779606, essv15779575, essv15779592, essv15779623, essv15779544, essv15779653, essv15779647, essv15779640, essv15779578, essv15779599, essv15779549, essv15779516, essv15779661, essv15779593, essv15779634, essv15779546, essv15779553, essv15779633, essv15779547, essv15779531, essv15779587, essv15779598, essv15779572, essv15779615, essv15779655, essv15779521, essv15779585, essv15779518, essv15779562, essv15779658, essv15779617, essv15779591, essv15779611, essv15779566, essv15779567, essv15779574, essv15779571, essv15779583, essv15779612, essv15779630, essv15779551
SamplesNA18642, HG00613, HG02122, HG02724, HG00537, HG03698, HG00536, HG03705, HG02166, HG01846, HG02398, NA19089, HG03977, HG01873, HG02086, HG01859, NA21123, HG02727, HG01858, HG03693, HG00449, HG01800, HG02601, NA19090, HG02088, HG04096, NA18603, NA18648, HG03969, HG01850, HG02048, HG03709, HG02681, HG02104, NA18953, NA18969, HG02379, HG00701, HG01844, HG01029, HG03696, HG01871, HG02778, HG03812, HG03947, NA18745, NA18596, HG03803, HG04038, HG02402, HG03690, HG02731, NA20896, HG04098, HG04210, NA18998, HG02061, HG02155, HG02360, HG03910, HG04144, HG01312, HG03779, HG04164, HG01595, HG00692, HG02373, HG03898, NA18636, HG03770, HG00628, NA18638, HG02410, NA20882, HG02356, HG02380, HG03595, HG00407, NA18634, HG03722, NA18970, HG03742, NA18539, HG00867, HG03780, HG02058, HG02392, HG01874, HG01974, HG03757, HG01600, HG01465, HG02383, NA18645, HG02102, HG02178, HG00629, HG03660, HG03743, NA20884, NA20852, NA21112, HG00851, HG03944, HG02401, HG02031, HG02651, HG03778, HG03800, NA21093, HG02364, NA18579, HG00729, HG02299, HG02395, HG02085, HG00410, HG01933, HG00443, HG02067, NA18567, NA18995, HG02070, HG02075, HG02035, HG03872, NA19747, NA18971, NA18577, HG02079, HG03615, NA18548, NA20886, HG02409, NA18610, NA18611, HG01177, HG01842, NA18532, HG04006, HG03695, HG02188, HG01857, HG03730, HG04182, HG03991, HG00531, HG03689
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641602
Frequency
Sample Size2504
Observed Gain0
Observed Loss148
Observed Complex0
Frequencyn/a


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