A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751979



Internal ID12638845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142135084..142296748hg38UCSC Ensembl
Innerchr3:141853926..142015590hg19UCSC Ensembl
Innerchr3:143336616..143498280hg18UCSC Ensembl
Innerchr3:143336624..143498288hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38161665
hg19161665
hg18161665
hg17161665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988649, essv6983288, essv6983287
SamplesBEC_563
Known GenesGK5, TFDP2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751979
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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