A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986256



Internal ID12975522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44968465..44995815hg38UCSC Ensembl
Innerchr4:44970482..44997832hg19UCSC Ensembl
Innerchr4:44665239..44692589hg18UCSC Ensembl
Innerchr4:44811410..44838760hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3827351
hg1927351
hg1827351
hg1727351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752047
Supporting Variants
SamplesBEC_592
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986256
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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