A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34979



Internal ID12644329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74167643..74822407hg38UCSC Ensembl
Innerchr11:73878688..74533452hg19UCSC Ensembl
Innerchr11:73556336..74211100hg18UCSC Ensembl
Innerchr11:73556336..74211100hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38654765
hg19654765
hg18654765
hg17654765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990387, essv6986908, essv6979616, essv6979615, essv6986907
SamplesNA18582
Known GenesC2CD3, CHRDL2, KCNE3, LIPT2, MIR4696, P4HA3, PGM2L1, POLD3, PPME1, RNF169
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)esv34979
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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