A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35099



Internal ID12991135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13968110..14043873hg38UCSC Ensembl
Innerchr1:14294605..14370368hg19UCSC Ensembl
Innerchr1:14167192..14242955hg18UCSC Ensembl
Innerchr1:14039911..14115674hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3875764
hg1975764
hg1875764
hg1775764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979949, essv6986978
SamplesNA18863
Known Genes
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)esv35099
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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