A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752001



Internal ID12638867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:3539056..3858107hg38UCSC Ensembl
Innerchr3:3580740..3899791hg19UCSC Ensembl
Innerchr3:3555740..3874791hg18UCSC Ensembl
Innerchr3:3555740..3874791hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38319052
hg19319052
hg18319052
hg17319052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984821, essv6984819, essv6984822, essv6984823, essv6984820
SamplesSPC_181
Known GenesLRRN1
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)esv2752001
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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