A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752062



Internal ID12985614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166095823..166650417hg38UCSC Ensembl
Innerchr5:165522828..166077422hg19UCSC Ensembl
Innerchr5:165455406..166010000hg18UCSC Ensembl
Innerchr5:165455406..166010000hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38554595
hg19554595
hg18554595
hg17554595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv207e55
Supporting Variantsessv6982237, essv6988509, essv6986115, essv6982235, essv6982236
SamplesBEC_405
Known Genes
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)esv2752062
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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