A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640559



Internal ID6680646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40897964..41118942hg38UCSC Ensembl
chr17:39054216..39275194hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38220979
hg19220979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15674492
SamplesHG03913
Known GenesKRT23, KRT39, KRT40, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-11, KRTAP4-7, KRTAP4-8, KRTAP4-9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640559
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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