A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14709917



Internal ID1938402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42750518..42752803hg38UCSC Ensembl
Innerchr13:42750568..42752753hg38UCSC Ensembl
Outerchr13:42750468..42752853hg38UCSC Ensembl
chr13:43324654..43326939hg19UCSC Ensembl
Innerchr13:43324704..43326889hg19UCSC Ensembl
Outerchr13:43324604..43326989hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg382286
hg192286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631898
Supporting Variants
SamplesHG01804
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14709917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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