A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34996



Internal ID12991032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104885045..105135512hg38UCSC Ensembl
Innerchr6:105332920..105583387hg19UCSC Ensembl
Innerchr6:105439613..105690080hg18UCSC Ensembl
Innerchr6:105439613..105690080hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38250468
hg19250468
hg18250468
hg17250468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv216e55
Supporting Variantsessv6978516, essv6978515, essv6978519, essv6978518, essv6978517
SamplesNA11881
Known GenesBVES, 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)esv34996
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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