A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752018



Internal ID12985570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75344579..75726932hg38UCSC Ensembl
Innerchr3:75393730..75776083hg19UCSC Ensembl
Innerchr3:75476420..75858773hg18UCSC Ensembl
Innerchr3:75476420..75858773hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38382354
hg19382354
hg18382354
hg17382354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181e55
Supporting Variantsessv6989343, essv6983082
SamplesBEC_540
Known GenesFAM86DP, FLJ20518, FRG2C, LINC00960, MIR1324
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)esv2752018
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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