A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv676e199



Internal ID20123978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5689713..5694860hg38UCSC Ensembl
chr2:5829845..5834992hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663878, esv2663948
SamplesHG00626, HG00650, HG00542, HG00442, HG01356, HG00536, HG00608, HG00671, HG01359, HG00524, HG01389, HG01374, HG01465, HG00699, HG00449, HG01461, HG00654, HG01140, HG00693, HG00663, HG01350, HG01366, HG00589, HG00501, HG01351, HG01488, HG00702, HG00689, HG00448, HG01492, HG01354, HG01365, HG00537, HG00590, HG01134, HG00512, HG00683, HG01495, HG00534, HG00422, HG00705, HG01440, HG00427, HG01550, HG00530, HG00419, HG00464, HG01353, HG00543, HG01136, HG00560, HG00629, HG00443, HG00596, HG01384, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00584, HG00533, HG00583, HG00500, HG01149, HG00619, HG00708, HG00692, HG00635, HG01390, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG01148, HG00476, HG00625, HG00580, HG01551, HG01375, HG00473, HG01494, HG00607, HG00662, HG00418, HG01489, HG01342, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG01491, HG00421, HG00656, HG01254, HG00698, HG01377, HG00595, HG00472, HG01378, HG00628, HG01112, HG00437, HG00581, HG00593
Known GenesSOX11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv676e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss117
Observed Complex0
Frequencyn/a


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