A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630896



Internal ID6671029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119002588..119005064hg38UCSC Ensembl
Innerchr12:119002588..119005064hg38UCSC Ensembl
Outerchr12:119002518..119005116hg38UCSC Ensembl
chr12:119440393..119442869hg19UCSC Ensembl
Innerchr12:119440393..119442869hg19UCSC Ensembl
Outerchr12:119440323..119442921hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14615666, essv14615606, essv14615567, essv14615611, essv14615627, essv14615601, essv14615662, essv14615642, essv14615585, essv14615645, essv14615641, essv14615652, essv14615639, essv14615612, essv14615628, essv14615603, essv14615589, essv14615597, essv14615614, essv14615593, essv14615590, essv14615640, essv14615607, essv14615657, essv14615586, essv14615655, essv14615581, essv14615617, essv14615572, essv14615665, essv14615600, essv14615620, essv14615660, essv14615602, essv14615634, essv14615605, essv14615649, essv14615653, essv14615632, essv14615637, essv14615648, essv14615651, essv14615575, essv14615618, essv14615631, essv14615664, essv14615656, essv14615604, essv14615578, essv14615621, essv14615644, essv14615599, essv14615630, essv14615591, essv14615663, essv14615598, essv14615574, essv14615659, essv14615582, essv14615592, essv14615588, essv14615647, essv14615596, essv14615638, essv14615566, essv14615570, essv14615654, essv14615580, essv14615579, essv14615573, essv14615661, essv14615633, essv14615636, essv14615623, essv14615587, essv14615577, essv14615576, essv14615619, essv14615658, essv14615646, essv14615635, essv14615608, essv14615622, essv14615594, essv14615568, essv14615616, essv14615615, essv14615626, essv14615609, essv14615595, essv14615643, essv14615625, essv14615610, essv14615624, essv14615584, essv14615583, essv14615571, essv14615613, essv14615629, essv14615650, essv14615569
SamplesNA18998, HG00650, HG00542, HG00592, HG01795, NA20853, NA18621, HG02648, NA18603, NA18528, NA18545, HG02058, NA18596, HG00566, NA18959, NA18616, NA18633, NA18988, NA18967, HG00622, HG02153, HG02185, HG02407, NA18595, HG02491, HG00448, NA18635, NA18547, NA18574, NA19079, NA18611, HG01849, NA18748, HG02178, NA20889, HG00406, NA18985, NA18973, HG00419, NA18539, HG01851, NA18614, HG02047, NA18951, HG01847, NA19070, HG00436, HG00556, NA19081, NA18579, NA18976, HG00619, HG04235, HG00110, NA18532, NA18553, NA18555, HG01865, NA18536, NA18570, HG00410, HG02408, HG02127, NA18945, HG04200, NA18546, NA18608, NA19003, NA18978, NA18542, NA18535, HG03809, HG00565, NA18941, NA19090, NA18992, HG00631, HG00607, NA18629, HG01620, HG01798, HG02137, NA19085, HG00620, HG02398, NA19060, NA18987, HG02032, HG00656, NA18636, NA19080, NA18972, NA18983, NA18984, NA18957, HG02351, NA19074, NA18622, HG00437, HG00581, NA18620
Known GenesSRRM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630896
Frequency
Sample Size2504
Observed Gain0
Observed Loss101
Observed Complex0
Frequencyn/a


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