A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659059



Internal ID9925164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119002887..119005011hg38UCSC Ensembl
chr12:119440692..119442816hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382125
hg192125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6488665, essv5939816, essv6487515, essv5524648, essv6210619, essv5830680, essv5754611, essv6362967, essv5947124, essv5744814, essv5859753, essv6490466, essv5630545, essv5973851, essv5627528, essv6233324, essv6056565, essv6502637, essv5929053, essv6327987, essv6206487, essv6295542, essv5515329, essv5509594, essv6425279, essv5715988, essv6261230, essv5414833, essv6508703, essv5831809, essv5936671, essv5526316, essv6470355, essv6566020, essv6164406, essv6485993, essv6241642, essv5904895, essv6500661, essv6455920, essv6191446, essv6201967, essv5859225, essv6233123, essv5942505, essv6206078, essv5800001, essv5677625, essv5855084, essv6122943, essv6222774, essv6096712, essv5592311, essv5675275, essv5926805, essv5521114, essv6330539, essv5932822, essv5769828
SamplesHG00650, HG00542, HG00592, NA18603, NA18545, NA18596, HG00566, NA18959, NA18616, NA18633, NA18988, NA18595, HG00702, HG00448, NA18635, NA18547, NA18574, NA19079, NA18611, HG00427, NA18985, NA18973, HG00419, NA18539, NA18951, NA19070, HG00436, NA18579, NA18976, HG00619, HG00635, NA18532, NA18553, NA18555, NA18536, NA18570, NA18546, NA18608, NA19003, NA18542, NA18535, HG00565, NA18941, HG00607, HG00418, NA19085, HG00620, HG00578, NA19060, NA18987, HG00656, NA18636, NA19080, NA18983, NA18984, NA19074, HG00437, HG00581, NA18620
Known GenesSRRM4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659059
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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