A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982846



Internal ID12975643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42868646..42906352hg38UCSC Ensembl
Innerchr2:43095786..43133492hg19UCSC Ensembl
Innerchr2:42949290..42986996hg18UCSC Ensembl
Innerchr2:43007437..43045143hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3837707
hg1937707
hg1837707
hg1737707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751889
Supporting Variants
SamplesBEC_604
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982846
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