A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752103



Internal ID12985655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167903764..168206528hg38UCSC Ensembl
Innerchr6:168304444..168607208hg19UCSC Ensembl
Innerchr6:168047293..168350057hg18UCSC Ensembl
Innerchr6:168123000..168425764hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38302765
hg19302765
hg18302765
hg17302765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218e55
Supporting Variantsessv6983029, essv6986328, essv6983028, essv6983027, essv6988616
SamplesBEC_535
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)esv2752103
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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