A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658189



Internal ID9924294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140481929..140490489hg38UCSC Ensembl
chr7:140181729..140190289hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg388561
hg198561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6255530, essv6137142, essv6007789, essv6077918, essv6531220, essv6385251, essv6216175, essv6358623, essv5415417, essv5800000, essv6329041, essv6469910, essv6197621, essv6356379, essv6174100, essv5928956, essv5526290, essv6598311, essv6156965, essv5866971, essv6275071, essv5754638, essv6413190, essv6082768, essv5959028, essv5604827, essv6234423, essv5479464, essv6092613, essv5602143
SamplesNA19909, HG01374, NA18959, NA20507, NA19068, HG01070, HG01351, HG00422, NA19901, HG00326, HG01353, HG00282, NA19707, NA19391, NA19663, HG01390, NA19654, HG00324, HG00284, NA20299, NA06989, NA18553, NA19375, HG00336, NA18559, NA07051, HG01357, NA19428, NA19078, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658189
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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