A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14848207



Internal ID6604447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90676654..90677983hg38UCSC Ensembl
Innerchr13:90676704..90677933hg38UCSC Ensembl
Outerchr13:90676558..90678079hg38UCSC Ensembl
chr13:91328908..91330237hg19UCSC Ensembl
Innerchr13:91328958..91330187hg19UCSC Ensembl
Outerchr13:91328812..91330333hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381330
hg191330
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633135
Supporting Variants
SamplesNA20773
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14848207
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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