A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15726577



Internal ID5728393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67032340..67042614hg38UCSC Ensembl
Innerchr17:67032340..67042614hg38UCSC Ensembl
Outerchr17:67032219..67042735hg38UCSC Ensembl
chr17:65028456..65038730hg19UCSC Ensembl
Innerchr17:65028456..65038730hg19UCSC Ensembl
Outerchr17:65028335..65038851hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3810275
hg1910275
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641077
Supporting Variants
SamplesNA18566
Known GenesCACNG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15726577
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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