A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750846



Internal ID12637712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9267354..9344634hg38UCSC Ensembl
Innerchr1:9327413..9404693hg19UCSC Ensembl
Innerchr1:9250000..9327280hg18UCSC Ensembl
Innerchr1:9261679..9338959hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3877281
hg1977281
hg1877281
hg1777281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2e55
Supporting Variantsessv6981500, essv6981501, essv6985587
SamplesBEC_287
Known GenesH6PD, SPSB1
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)esv2750846
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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