A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987277



Internal ID12984104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130999239..131430240hg38UCSC Ensembl
Innerchr4:131920394..132351395hg19UCSC Ensembl
Innerchr4:132139844..132570845hg18UCSC Ensembl
Innerchr4:132277999..132709000hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38431002
hg19431002
hg18431002
hg17431002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752025
Supporting Variants
SamplesSPC_63
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987277
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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