A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984440



Internal ID12976994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:36567..117100hg38UCSC Ensembl
Innerchr4:36568..116981hg19UCSC Ensembl
Innerchr4:26568..106981hg18UCSC Ensembl
Innerchr4:26568..106981hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3880534
hg1980414
hg1880414
hg1780414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752043
Supporting Variants
SamplesBEC_706
Known GenesZNF595, ZNF718
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984440
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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