A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752066



Internal ID12638932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32101294..32177637hg38UCSC Ensembl
Innerchr5:32101400..32177743hg19UCSC Ensembl
Innerchr5:32137157..32213500hg18UCSC Ensembl
Innerchr5:32137157..32213500hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876344
hg1976344
hg1876344
hg1776344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv201e55
Supporting Variantsessv6985708, essv6985707
SamplesSPC_34
Known GenesGOLPH3, PDZD2
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)esv2752066
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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