A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752030



Internal ID12985582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143867490..144038242hg38UCSC Ensembl
Innerchr4:144788643..144959395hg19UCSC Ensembl
Innerchr4:145008093..145178845hg18UCSC Ensembl
Innerchr4:145146248..145317000hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38170753
hg19170753
hg18170753
hg17170753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988315, essv6985407, essv6980780
SamplesBEC_149
Known GenesGYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752030
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer