A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983095



Internal ID12974809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53137040..53248200hg38UCSC Ensembl
Innerchr2:53364178..53475338hg19UCSC Ensembl
Innerchr2:53217682..53328842hg18UCSC Ensembl
Innerchr2:53275829..53386989hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38111161
hg19111161
hg18111161
hg17111161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751897
Supporting Variants
SamplesBEC_542
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983095
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