A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752010



Internal ID12985562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60081670..60302699hg38UCSC Ensembl
Innerchr3:60067396..60288428hg19UCSC Ensembl
Innerchr3:60042436..60263468hg18UCSC Ensembl
Innerchr3:60042436..60263468hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38221030
hg19221033
hg18221033
hg17221033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv178e55
Supporting Variantsessv6990092, essv6985174, essv6985173, essv6989480, essv6985172
SamplesSPC_113
Known GenesFHIT
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)esv2752010
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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