A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983356



Internal ID12629463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43609548..43762259hg38UCSC Ensembl
Innerchr2:43836687..43989398hg19UCSC Ensembl
Innerchr2:43690191..43842902hg18UCSC Ensembl
Innerchr2:43748338..43901049hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38152712
hg19152712
hg18152712
hg17152712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751892
Supporting Variants
SamplesBEC_642
Known GenesLOC728819, PLEKHH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983356
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