A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34861



Internal ID12644211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167837932..168195239hg38UCSC Ensembl
Innerchr6:168238612..168595919hg19UCSC Ensembl
Innerchr6:167981461..168338768hg18UCSC Ensembl
Innerchr6:168057168..168414475hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38357308
hg19357308
hg18357308
hg17357308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217e55
Supporting Variantsessv6979029, essv6986776, essv6990318, essv6979028, essv6979027
SamplesNA12815
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)esv34861
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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