A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12921165



Internal ID6021669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108581808..108585696hg38UCSC Ensembl
Innerchr7:108581808..108585696hg38UCSC Ensembl
Outerchr7:108581736..108585773hg38UCSC Ensembl
chr7:108222252..108226140hg19UCSC Ensembl
Innerchr7:108222252..108226140hg19UCSC Ensembl
Outerchr7:108222180..108226217hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg383889
hg193889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614475
Supporting Variants
SamplesNA19434
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12921165
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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