A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12966317



Internal ID4870047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129129955..129132211hg38UCSC Ensembl
Innerchr7:129130003..129132163hg38UCSC Ensembl
Outerchr7:129129907..129132259hg38UCSC Ensembl
chr7:128770009..128772265hg19UCSC Ensembl
Innerchr7:128770057..128772217hg19UCSC Ensembl
Outerchr7:128769961..128772313hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg382257
hg192257
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614993
Supporting Variants
SamplesNA12340
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12966317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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