A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978844



Internal ID12979223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131041463..131461222hg38UCSC Ensembl
Innerchr4:131962618..132382377hg19UCSC Ensembl
Innerchr4:132182068..132601827hg18UCSC Ensembl
Innerchr4:132320223..132739982hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38419760
hg19419760
hg18419760
hg17419760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35031
Supporting Variants
SamplesNA12740
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978844
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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