A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15675966



Internal ID6213902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41086516..41109049hg38UCSC Ensembl
chr17:39242768..39265301hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3822534
hg1922534
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640575
Supporting Variants
SamplesNA19740
Known GenesKRTAP4-8, KRTAP4-9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15675966
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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