A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15731879



Internal ID1092880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70106722..70108309hg38UCSC Ensembl
Innerchr17:70106722..70108309hg38UCSC Ensembl
Outerchr17:70106446..70108578hg38UCSC Ensembl
chr17:68102863..68104450hg19UCSC Ensembl
Innerchr17:68102863..68104450hg19UCSC Ensembl
Outerchr17:68102587..68104719hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg381588
hg191588
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641143
Supporting Variants
SamplesHG00728
Known GenesKCNJ16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15731879
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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