A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14801754



Internal ID4803570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77929524..77935467hg38UCSC Ensembl
Innerchr13:77929524..77935467hg38UCSC Ensembl
Outerchr13:77929260..77935730hg38UCSC Ensembl
chr13:78503659..78509602hg19UCSC Ensembl
Innerchr13:78503659..78509602hg19UCSC Ensembl
Outerchr13:78503395..78509865hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385944
hg195944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632785
Supporting Variants
SamplesHG00699
Known GenesEDNRB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14801754
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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