A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751816



Internal ID12985368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117016269..117165215hg38UCSC Ensembl
Innerchr2:117773845..117922791hg19UCSC Ensembl
Innerchr2:117490315..117639261hg18UCSC Ensembl
Innerchr2:117490075..117639021hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38148947
hg19148947
hg18148947
hg17148947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv157e55
Supporting Variantsessv6984369, essv6988795, essv6987577, essv6984370
SamplesBEC_695
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)esv2751816
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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