A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751621



Internal ID12638487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21593333..22646179hg38UCSC Ensembl
Innerchr17:21496599..22145506hg19UCSC Ensembl
Innerchr17:21437192..22069633hg18UCSC Ensembl
Innerchr17:21437192..22069633hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381052847
hg19648908
hg18632442
hg17632442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984552, essv6984551, essv6984553, essv6987621, essv6987620
SamplesBEC_718
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)esv2751621
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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