A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663843



Internal ID9929948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3635384..3636921hg38UCSC Ensembl
Outerchr18:3635318..3636977hg38UCSC Ensembl
Innerchr18:3635383..3636920hg19UCSC Ensembl
Outerchr18:3635317..3636976hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv578e199
Supporting Variantsessv5640723, essv6389403, essv5496311, essv5637964, essv5421809, essv5483454, essv5831832, essv5829525, essv6327061, essv5967692, essv5591315, essv6448208, essv6317244, essv6057431, essv6542164, essv5404415, essv5654240, essv5481815, essv6398356, essv5664958, essv6541509, essv6132476, essv5777736, essv5761820, essv6516694, essv6178470, essv6498313, essv5971106, essv6487652, essv6057345, essv6357484, essv6530050, essv5872273, essv5531415, essv6557416, essv5716452, essv6558370, essv6307840, essv6003090, essv5529482, essv6114106, essv6434816, essv6547640, essv6350760, essv6141701, essv5590738
SamplesHG00650, NA18621, NA18565, HG01374, NA19355, HG00702, HG00689, NA19723, NA18619, NA18558, NA18942, HG00736, NA18574, HG00683, NA19372, NA18560, NA19075, HG00705, NA19087, HG01440, NA19901, NA19189, NA18990, NA18614, HG00560, NA19455, NA18534, NA18553, NA18634, NA19729, HG00611, NA18543, NA19256, HG00565, NA19072, NA18950, NA19010, HG00473, HG00237, HG01342, NA19759, HG00513, HG00656, NA18989, NA18622, HG01437
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663843
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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