A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751622



Internal ID12985174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22190839..22646179hg38UCSC Ensembl
Innerchr17:21717445..22145506hg19UCSC Ensembl
Innerchr17:21641572..22069633hg18UCSC Ensembl
Innerchr17:21641572..22069633hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38455341
hg19428062
hg18428062
hg17428062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983319, essv6983318, essv6988654, essv6983317
SamplesBEC_637
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751622
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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