A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983317



Internal ID12976089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22190839..22621405hg38UCSC Ensembl
Innerchr17:21717445..22120732hg19UCSC Ensembl
Innerchr17:21641572..22044859hg18UCSC Ensembl
Innerchr17:21641572..22044859hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38430567
hg19403288
hg18403288
hg17403288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751622
Supporting Variants
SamplesBEC_637
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983317
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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