A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751912



Internal ID12638778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33179619..33248657hg38UCSC Ensembl
Innerchr20:31767425..31836463hg19UCSC Ensembl
Innerchr20:31231086..31300124hg18UCSC Ensembl
Innerchr20:31231086..31300124hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3869039
hg1969039
hg1869039
hg1769039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989489, essv6985340, essv6985341
SamplesSPC_147
Known GenesBPIFA1, BPIFA2, BPIFA3, BPIFA4P
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)esv2751912
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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