A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14673304



Internal ID6723057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26240289..26241946hg38UCSC Ensembl
Innerchr13:26240348..26241887hg38UCSC Ensembl
Outerchr13:26240230..26242005hg38UCSC Ensembl
chr13:26814426..26816083hg19UCSC Ensembl
Innerchr13:26814485..26816024hg19UCSC Ensembl
Outerchr13:26814367..26816142hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381658
hg191658
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631596
Supporting Variants
SamplesNA20851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14673304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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