A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14904184



Internal ID1973254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112905441..112907968hg38UCSC Ensembl
Innerchr13:112905450..112907960hg38UCSC Ensembl
Outerchr13:112905433..112907977hg38UCSC Ensembl
chr13:113559755..113562282hg19UCSC Ensembl
Innerchr13:113559764..113562274hg19UCSC Ensembl
Outerchr13:113559747..113562291hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382528
hg192528
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633592
Supporting Variants
SamplesHG01840
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14904184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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