A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15231042



Internal ID2850468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42507846..42508511hg38UCSC Ensembl
Innerchr15:42507862..42508495hg38UCSC Ensembl
Outerchr15:42507830..42508527hg38UCSC Ensembl
chr15:42800044..42800709hg19UCSC Ensembl
Innerchr15:42800060..42800693hg19UCSC Ensembl
Outerchr15:42800028..42800725hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636272
Supporting Variants
SamplesHG02513
Known GenesSNAP23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15231042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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