A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14732339



Internal ID4969067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52763626..52765163hg38UCSC Ensembl
Innerchr13:52763641..52765148hg38UCSC Ensembl
Outerchr13:52763611..52765178hg38UCSC Ensembl
chr13:53337761..53339298hg19UCSC Ensembl
Innerchr13:53337776..53339283hg19UCSC Ensembl
Outerchr13:53337746..53339313hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381538
hg191538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632105
Supporting Variants
SamplesNA12873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14732339
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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