A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14766314



Internal ID3389988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:61571205..61581681hg38UCSC Ensembl
Innerchr13:61571705..61581181hg38UCSC Ensembl
Outerchr13:61570205..61582681hg38UCSC Ensembl
chr13:62145338..62155814hg19UCSC Ensembl
Innerchr13:62145838..62155314hg19UCSC Ensembl
Outerchr13:62144338..62156814hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3810477
hg1910477
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632339
Supporting Variants
SamplesHG03040
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14766314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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