A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12713882



Internal ID6274665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27497678..27507635hg38UCSC Ensembl
Innerchr7:27497691..27507622hg38UCSC Ensembl
Outerchr7:27497665..27507648hg38UCSC Ensembl
chr7:27537297..27547254hg19UCSC Ensembl
Innerchr7:27537310..27547241hg19UCSC Ensembl
Outerchr7:27537284..27547267hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg389958
hg199958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612659
Supporting Variants
SamplesNA19792
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12713882
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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