A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674791



Internal ID9594210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101882170..101883376hg38UCSC Ensembl
chr12:102275948..102277154hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308e199
Supporting Variantsessv5556682, essv6309505, essv5718385, essv6231741, essv6494994, essv5728179, essv5755473, essv6366781, essv6012678, essv5792205, essv5901922, essv6162976, essv5400871, essv5411204, essv6081597, essv5766039, essv6487417, essv6324526, essv6056965, essv6032369, essv6371178, essv6519981, essv6445612, essv5403628, essv5619252, essv5843880, essv5664358, essv6550215, essv6550521, essv6240024, essv5652600, essv6353902, essv6133628, essv6402329, essv6514521, essv6083154, essv5635079, essv6578340, essv5801304, essv6015187, essv5565024, essv5769346, essv6385467, essv6369033, essv6472088, essv5903976, essv6326396, essv6282469, essv5831209, essv5498521, essv6379725, essv6346351, essv5495484, essv6296327, essv6529807, essv5575714, essv5893220, essv6158752, essv5487308, essv5896483, essv5445456, essv6537215, essv5618361, essv6095741, essv6258213, essv6078749, essv6284114, essv5471767, essv6082486, essv5972483
SamplesHG00542, NA19058, HG00608, HG00671, HG00524, NA18561, NA18599, HG00699, NA18545, NA18596, NA18606, HG00663, HG00501, NA18595, HG00689, HG00448, NA20769, NA19062, NA18574, NA19054, NA18964, HG00537, HG00590, HG00683, HG00534, HG00422, HG00705, HG00419, HG00464, NA18544, NA18613, HG00629, HG00443, NA18538, HG00557, NA19077, HG00577, HG00584, HG00533, HG00500, HG00275, HG00619, HG00708, NA19064, NA18548, HG00684, HG00613, NA19059, NA18963, NA18570, NA19012, NA18546, HG00254, NA18961, NA18543, NA19072, HG00607, NA18610, HG00614, HG00478, NA19060, HG00656, NA18983, HG00595, NA18984, NA18623, NA19065, NA18549, NA18622, HG00593
Known GenesDRAM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674791
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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