A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988950



Internal ID12984118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130974982..131492987hg38UCSC Ensembl
Innerchr4:131896137..132414142hg19UCSC Ensembl
Innerchr4:132115587..132633592hg18UCSC Ensembl
Innerchr4:132253742..132771747hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38518006
hg19518006
hg18518006
hg17518006
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988950
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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