A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674493



Internal ID5676309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40902724..41042362hg38UCSC Ensembl
chr17:39058976..39198614hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38139639
hg19139639
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640560
Supporting Variants
SamplesHG03913
Known GenesKRT23, KRT39, KRT40, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP3-3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674493
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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