A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752087



Internal ID12985639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:165391..367109hg38UCSC Ensembl
Innerchr6:165391..367109hg19UCSC Ensembl
Innerchr6:110391..312109hg18UCSC Ensembl
Innerchr6:110391..312109hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38201719
hg19201719
hg18201719
hg17201719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981763, essv6981765, essv6981766, essv6981767, essv6981764
SamplesBEC_465
Known GenesDUSP22
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)esv2752087
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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