A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632786



Internal ID6672910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77933445..77939194hg38UCSC Ensembl
Innerchr13:77933495..77939144hg38UCSC Ensembl
Outerchr13:77933341..77939298hg38UCSC Ensembl
chr13:78507580..78513329hg19UCSC Ensembl
Innerchr13:78507630..78513279hg19UCSC Ensembl
Outerchr13:78507476..78513433hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385750
hg195750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14801757, essv14801758, essv14801759, essv14801756
SamplesNA18526, NA18517, NA20877, HG00610
Known GenesEDNRB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632786
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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