A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752041



Internal ID12638907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187118866..188100311hg38UCSC Ensembl
Innerchr4:188040020..189021465hg19UCSC Ensembl
Innerchr4:188277014..189258459hg18UCSC Ensembl
Innerchr4:188415169..189396614hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38981446
hg19981446
hg18981446
hg17981446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986220, essv6982632, essv6988561, essv6986219, essv6982631, essv6982630
SamplesBEC_573
Known GenesLOC339975, TRIML2, ZFP42
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)esv2752041
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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