A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752043



Internal ID12638909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:29099..117100hg38UCSC Ensembl
Innerchr4:29099..116981hg19UCSC Ensembl
Innerchr4:19099..106981hg18UCSC Ensembl
Innerchr4:19099..106981hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3888002
hg1987883
hg1887883
hg1787883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984440, essv6984439
SamplesBEC_706
Known GenesZNF595, ZNF718
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752043
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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