A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750798



Internal ID12984350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109146692..109212336hg38UCSC Ensembl
Innerchr1:109689314..109754958hg19UCSC Ensembl
Innerchr1:109490837..109556481hg18UCSC Ensembl
Innerchr1:109401356..109467000hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3865645
hg1965645
hg1865645
hg1765645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983716, essv6983715, essv6983714, essv6989844
SamplesBEC_617
Known GenesKIAA1324
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)esv2750798
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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