A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14856876



Internal ID2960403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92264593..92303508hg38UCSC Ensembl
Innerchr13:92264596..92303506hg38UCSC Ensembl
Outerchr13:92264591..92303511hg38UCSC Ensembl
chr13:92916846..92955761hg19UCSC Ensembl
Innerchr13:92916849..92955759hg19UCSC Ensembl
Outerchr13:92916844..92955764hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3838916
hg1938916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633173
Supporting Variants
SamplesHG02614
Known GenesGPC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14856876
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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