A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716444



Internal ID5718260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60966399..60968234hg38UCSC Ensembl
Innerchr17:60966404..60968229hg38UCSC Ensembl
Outerchr17:60966394..60968239hg38UCSC Ensembl
chr17:59043760..59045595hg19UCSC Ensembl
Innerchr17:59043765..59045590hg19UCSC Ensembl
Outerchr17:59043755..59045600hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381836
hg191836
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640940
Supporting Variants
SamplesNA18986
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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