A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672845



Internal ID9592264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100426793..100429899hg38UCSC Ensembl
Outerchr7:100426422..100430269hg38UCSC Ensembl
Innerchr7:100024416..100027522hg19UCSC Ensembl
Outerchr7:100024045..100027892hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383848
hg193848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1226e199
Supporting Variantsessv5972335, essv5757586, essv5715042, essv6413485, essv5602128, essv5585670, essv6042949, essv5794035, essv6235459, essv6405128, essv6471982, essv6098807, essv5454458, essv6383311, essv5469856, essv6264488, essv6283215, essv6294001, essv5942786, essv5871889, essv5457108, essv5514040, essv6432722, essv5574673, essv5873920, essv5741358, essv5555719, essv5690491, essv6046878, essv5905612, essv6489544, essv5652192, essv6349609, essv5664232, essv6432261, essv5769911, essv5997199, essv6033918, essv5808555, essv5969803, essv6407029, essv6028332, essv6341915, essv5867717, essv5837312, essv6178930, essv6180170, essv6272324, essv6491262, essv6352413, essv6324945, essv5942166, essv5868130, essv5699601, essv5509540, essv6517633, essv6578623, essv5561051, essv6094435, essv6042498, essv5963366, essv6301217, essv6177937
SamplesHG00189, HG00361, HG00187, HG00315, HG00367, HG00318, HG00181, HG00179, HG00177, HG00337, HG00327, HG00271, HG00272, HG00346, HG00270, HG00334, HG00185, HG00281, HG00277, HG00335, HG00325, HG00309, HG00338, HG00326, HG00178, HG00323, HG00313, HG00268, HG00266, HG00183, HG00176, HG00282, HG00328, HG00190, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00353, HG00357, HG00278, HG00319, HG00339, HG00269, HG00312, HG00329, HG00342, HG00310, HG00186, HG00280, HG00343, HG00377, HG00274, HG00171
Known GenesMEPCE, ZCWPW1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672845
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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