A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665371



Internal ID9584790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6745835..6749091hg38UCSC Ensembl
Outerchr7:6745464..6749461hg38UCSC Ensembl
Innerchr7:6785466..6788722hg19UCSC Ensembl
Outerchr7:6785095..6789092hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5932001, essv5425423, essv5519110, essv6269151, essv6035166, essv6366407, essv5711055, essv6341298, essv6391480, essv6370585, essv6557096, essv5956615, essv6506141, essv6123684, essv5461456, essv5922447, essv6302680, essv5601781, essv6220190, essv5980424, essv5832665, essv6204474, essv6002723, essv6575442, essv6052412, essv6029354, essv6018539, essv6409848, essv6446567, essv5667844, essv5964074, essv6223966, essv5639652, essv5987394, essv5573497, essv6187816, essv5504305, essv5788344, essv6179085, essv6248230, essv6540382, essv6255802, essv6449030, essv5621971, essv5759739, essv6215367, essv5577665, essv6315657
SamplesNA19312, NA19436, NA19437, NA19311, NA19469, NA19455, NA19319, NA19430, NA19359, NA19331, NA19453, NA19451, NA19461, NA19379, NA19355, NA19438, NA19463, NA19428, NA19443, NA19444, NA19396, NA19397, NA19324, NA19360, NA19377, NA19395, NA19374, NA19393, NA19373, NA19384, NA19347, NA19332, NA19382, NA19376, NA19394, NA19403, NA19431, NA19434, NA19446, NA19452, NA19399, NA19470, NA19315, NA19381, NA19448, NA19468, NA19385, NA19456
Known GenesPMS2CL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665371
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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