A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664029



Internal ID9930134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148936224..148944930hg38UCSC Ensembl
Outerchr7:148935853..148945300hg38UCSC Ensembl
Innerchr7:148633316..148642022hg19UCSC Ensembl
Outerchr7:148632945..148642392hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg389448
hg199448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5871955, essv5699827, essv6036669, essv5454756, essv5626427, essv6156240
SamplesNA20589, NA20774, NA20756, NA20785, NA20778, NA20754
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664029
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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