A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661124



Internal ID9927229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833003..89244539hg38UCSC Ensembl
Outerchr2:88832632..89244909hg38UCSC Ensembl
Innerchr2:89132516..89544022hg19UCSC Ensembl
Outerchr2:89132145..89544392hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38412278
hg19412248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714e199
Supporting Variantsessv6334004, essv5589566, essv6095146, essv6391057, essv5544572, essv5671739, essv5827237, essv6537711, essv5477280, essv6438101, essv6253415, essv6492506, essv5561949, essv6221613, essv6036230, essv6415924, essv6538659, essv5424929, essv5806376, essv5955057, essv5814759, essv6222374, essv6114249, essv6322825, essv5978691, essv5827688, essv6333832, essv6496659, essv6039263, essv5891988, essv5627556, essv5512819, essv6447480, essv6561569, essv5468808, essv5531034, essv5974123, essv6556445, essv5762261, essv5746264, essv5999771, essv6249527, essv5710800, essv5575080, essv5506220, essv6067523, essv6103107, essv6400525, essv6345462, essv5901528, essv5475815, essv6483885, essv6141614, essv5440415, essv5431558, essv5544692, essv6486077, essv6147237, essv6304574, essv5934719, essv6279343, essv6323028, essv5962889, essv5935200, essv5923726, essv6449828, essv5931231
SamplesHG00189, HG00187, HG00315, HG00306, HG00367, HG00318, HG00181, HG00179, HG00177, HG00337, HG00271, HG00272, HG00173, HG00330, HG00346, HG00270, HG00334, HG00185, HG00311, HG00281, HG00277, HG00335, HG00325, HG00309, HG00338, HG00178, HG00323, HG00313, HG00188, HG00268, HG00183, HG00176, HG00282, HG00190, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00375, HG00278, HG00319, HG00339, HG00269, HG00312, HG00329, HG00342, HG00267, HG00174, HG00280, HG00343, HG00377, HG00372, HG00274, HG00171, HG00345, HG00180
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661124
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