A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751992



Internal ID12985544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:21745401..22170865hg38UCSC Ensembl
Innerchr3:21786893..22212357hg19UCSC Ensembl
Innerchr3:21761897..22187361hg18UCSC Ensembl
Innerchr3:21761897..22187361hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38425465
hg19425465
hg18425465
hg17425465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988734, essv6983943, essv6987453
SamplesBEC_736
Known GenesZNF385D
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)esv2751992
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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