A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750796



Internal ID12984348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102192423..102384423hg38UCSC Ensembl
Innerchr1:102657979..102849979hg19UCSC Ensembl
Innerchr1:102430567..102622567hg18UCSC Ensembl
Innerchr1:102370000..102562000hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38192001
hg19192001
hg18192001
hg17192001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5e55
Supporting Variantsessv6984763, essv6990019, essv6990018, essv6984762
SamplesSPC_178
Known GenesMIR548AI
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)esv2750796
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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