A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14863531



Internal ID4865347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93354252..93395400hg38UCSC Ensembl
chr13:94006505..94047653hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3841149
hg1941149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633198
Supporting Variants
SamplesHG03095
Known GenesGPC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14863531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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