A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752109



Internal ID12985661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167929764..168226764hg38UCSC Ensembl
Innerchr6:168330444..168627444hg19UCSC Ensembl
Innerchr6:168073293..168370293hg18UCSC Ensembl
Innerchr6:168149000..168446000hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38297001
hg19297001
hg18297001
hg17297001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218e55
Supporting Variantsessv6983496, essv6983497, essv6983495, essv6988679, essv6983494
SamplesBEC_661
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)esv2752109
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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