A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752042



Internal ID12985594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189621660..189854489hg38UCSC Ensembl
Innerchr4:190542814..190775644hg19UCSC Ensembl
Innerchr4:190779808..191012638hg18UCSC Ensembl
Innerchr4:190917963..191150793hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38232830
hg19232831
hg18232831
hg17232831
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985794, essv6985793, essv6990143
SamplesSPC_50
Known Genes
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)esv2752042
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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