A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15606431



Internal ID5096644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8343303..8344647hg38UCSC Ensembl
Innerchr17:8343303..8344647hg38UCSC Ensembl
Outerchr17:8342963..8345039hg38UCSC Ensembl
chr17:8246621..8247965hg19UCSC Ensembl
Innerchr17:8246621..8247965hg19UCSC Ensembl
Outerchr17:8246281..8248357hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639883
Supporting Variants
SamplesNA18550
Known GenesODF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15606431
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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