A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34305



Internal ID12990344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73862086..73965564hg38UCSC Ensembl
Innerchr6:74571797..74675280hg19UCSC Ensembl
Innerchr6:74628530..74732000hg18UCSC Ensembl
Innerchr6:74628530..74732000hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38103479
hg19103484
hg18103471
hg17103471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979225, essv6986817
SamplesNA18508
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)esv34305
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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