A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751271



Internal ID12984823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36276443..36313743hg38UCSC Ensembl
Innerchr14:36745649..36782949hg19UCSC Ensembl
Innerchr14:35815400..35852700hg18UCSC Ensembl
Innerchr14:35815400..35852700hg17UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3837301
hg1937301
hg1837301
hg1737301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv83e55
Supporting Variantsessv6987526, essv6988769
SamplesBEC_806
Known GenesMBIP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751271
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