A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676722



Internal ID9942827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174642627..174643690hg38UCSC Ensembl
chr2:175507355..175508418hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381064
hg191064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5518326, essv5589380, essv6034823, essv5957261, essv6052702, essv5569495, essv6574169, essv6580994, essv6401621, essv5842045, essv5670007, essv5745975, essv5970006, essv6325157, essv6193760, essv6308172, essv5702913, essv5903452, essv6420614, essv6294848, essv6315739, essv6131952, essv5741456, essv5512571, essv6036696, essv6453779, essv5992760, essv6266121, essv6004863, essv5650148, essv6062956, essv5853020, essv5836715, essv6525465, essv6316833, essv5987585, essv5466021, essv6299602, essv6161270, essv6214475, essv6349020, essv6382329, essv5549120, essv5809734, essv6534338, essv6183458, essv5664200, essv5841551, essv5753447, essv5844074, essv5885800, essv5751740, essv5657578, essv6489705, essv6450188, essv5833988, essv6253573, essv6106972, essv5626303, essv5561541, essv5718581, essv6363352, essv5686619, essv6300635, essv6522942, essv6139469, essv5529523
SamplesNA19701, HG01173, NA18924, NA19466, NA19332, NA20294, NA19819, NA19393, NA18504, NA19190, HG01051, NA19920, NA19374, NA18519, NA19448, NA18923, NA19916, NA19457, NA19313, NA19138, NA18498, NA20336, NA19404, HG01134, NA19383, NA18868, NA19371, NA19385, NA19471, NA19189, NA19456, NA18908, NA19921, NA19247, HG01171, NA19403, NA19347, HG01095, NA19982, NA20344, NA19114, NA19449, HG01101, NA19099, NA19338, HG01107, NA19375, NA18909, NA19108, NA19256, NA19712, NA19435, NA19380, NA19439, NA19324, NA20281, NA19783, NA19328, NA19438, NA19713, NA20289, NA18873, NA19116, NA19711, NA19430, HG01082, NA18522
Known GenesWIPF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676722
Frequency
Sample Size1151
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer