A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12860857



Internal ID5312007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79842311..79852349hg38UCSC Ensembl
Innerchr7:79842311..79852349hg38UCSC Ensembl
Outerchr7:79841894..79852679hg38UCSC Ensembl
chr7:79471627..79481665hg19UCSC Ensembl
Innerchr7:79471627..79481665hg19UCSC Ensembl
Outerchr7:79471210..79481995hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3810039
hg1910039
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613841
Supporting Variants
SamplesNA18861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12860857
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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