A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15259347



Internal ID4787736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:57350452..57488224hg38UCSC Ensembl
Innerchr15:57350602..57488074hg38UCSC Ensembl
Outerchr15:57350302..57488374hg38UCSC Ensembl
chr15:57642650..57780422hg19UCSC Ensembl
Innerchr15:57642800..57780272hg19UCSC Ensembl
Outerchr15:57642500..57780572hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38137773
hg19137773
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636609
Supporting Variants
SamplesNA11919
Known GenesCGNL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15259347
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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