A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35078



Internal ID12644428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:19513779..20728244hg38UCSC Ensembl
Innerchr3:19555271..20769736hg19UCSC Ensembl
Innerchr3:19530275..20744740hg18UCSC Ensembl
Innerchr3:19530275..20744740hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381214466
hg191214466
hg181214466
hg171214466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979124, essv6979125
SamplesNA15510
Known GenesEFHB, KAT2B, KCNH8, PP2D1, RAB5A, SGOL1, SGOL1-AS1
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)esv35078
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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