A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978864



Internal ID12979248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130999240..131430240hg38UCSC Ensembl
Innerchr4:131920395..132351395hg19UCSC Ensembl
Innerchr4:132139845..132570845hg18UCSC Ensembl
Innerchr4:132278000..132709000hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38431001
hg19431001
hg18431001
hg17431001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34850
Supporting Variants
SamplesNA12751
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978864
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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