A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679169



Internal ID1052696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43011330..43012501hg38UCSC Ensembl
Innerchr17:43011330..43012501hg38UCSC Ensembl
Outerchr17:43011092..43012764hg38UCSC Ensembl
chr17:41163347..41164518hg19UCSC Ensembl
Innerchr17:41163347..41164518hg19UCSC Ensembl
Outerchr17:41163109..41164781hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381172
hg191172
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640619
Supporting Variants
SamplesHG00674
Known GenesIFI35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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