A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680783



Internal ID5682599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44923787..44925188hg38UCSC Ensembl
Innerchr17:44923787..44925188hg38UCSC Ensembl
Outerchr17:44923552..44925350hg38UCSC Ensembl
chr17:43001155..43002556hg19UCSC Ensembl
Innerchr17:43001155..43002556hg19UCSC Ensembl
Outerchr17:43000920..43002718hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640656
Supporting Variants
SamplesNA18505
Known GenesKIF18B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680783
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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