A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979523



Internal ID12633621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41489922..41609422hg38UCSC Ensembl
Innerchr17:39646174..39765674hg19UCSC Ensembl
Innerchr17:36899700..37019200hg18UCSC Ensembl
Innerchr17:36899700..37019200hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38119501
hg19119501
hg18119501
hg17119501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34903
Supporting Variants
SamplesNA18564
Known GenesKRT13, KRT14, KRT15, KRT19, KRT9, LINC00974, MIR6510
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979523
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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