A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15735816



Internal ID2187841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72776435..72824011hg38UCSC Ensembl
Innerchr17:72776443..72824004hg38UCSC Ensembl
Outerchr17:72776428..72824019hg38UCSC Ensembl
chr17:70772574..70820150hg19UCSC Ensembl
Innerchr17:70772582..70820143hg19UCSC Ensembl
Outerchr17:70772567..70820158hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3847577
hg1947577
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641205
Supporting Variants
SamplesHG01974
Known GenesSLC39A11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15735816
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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