A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982379



Internal ID12973638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117215578..117353729hg38UCSC Ensembl
Innerchr2:117973154..118111305hg19UCSC Ensembl
Innerchr2:117689624..117827775hg18UCSC Ensembl
Innerchr2:117689384..117827535hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38138152
hg19138152
hg18138152
hg17138152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751820
Supporting Variants
SamplesBEC_431
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982379
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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