A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984439



Internal ID12630309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:29099..102685hg38UCSC Ensembl
Innerchr4:29099..102571hg19UCSC Ensembl
Innerchr4:19099..92571hg18UCSC Ensembl
Innerchr4:19099..92571hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3873587
hg1973473
hg1873473
hg1773473
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984439
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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