A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716240



Internal ID5718056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60890960..60895697hg38UCSC Ensembl
Innerchr17:60890960..60895697hg38UCSC Ensembl
Outerchr17:60890736..60895987hg38UCSC Ensembl
chr17:58968321..58973058hg19UCSC Ensembl
Innerchr17:58968321..58973058hg19UCSC Ensembl
Outerchr17:58968097..58973348hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg384738
hg194738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640938
Supporting Variants
SamplesHG01864
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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