A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34842



Internal ID12990878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104885045..105139752hg38UCSC Ensembl
Innerchr6:105332920..105587627hg19UCSC Ensembl
Innerchr6:105439613..105694320hg18UCSC Ensembl
Innerchr6:105439613..105694320hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38254708
hg19254708
hg18254708
hg17254708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv216e55
Supporting Variantsessv6978037, essv6978038, essv6978039, essv6978036, essv6986525
SamplesNA10859
Known GenesBVES, BVES-AS1, LIN28B, LINC00577
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)esv34842
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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