A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15728100



Internal ID5715300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67967719..67969635hg38UCSC Ensembl
Innerchr17:67967720..67969635hg38UCSC Ensembl
Outerchr17:67967719..67969636hg38UCSC Ensembl
chr17:65963835..65965751hg19UCSC Ensembl
Innerchr17:65963836..65965751hg19UCSC Ensembl
Outerchr17:65963835..65965752hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381917
hg191917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641105
Supporting Variants
SamplesNA19095
Known GenesBPTF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15728100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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