A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988002



Internal ID12625841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241978628..242059756hg38UCSC Ensembl
Innerchr2:242920779..243001907hg19UCSC Ensembl
Innerchr2:242569452..242650580hg18UCSC Ensembl
Innerchr2:242636531..242717659hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3881129
hg1981129
hg1881129
hg1781129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751850
Supporting Variants
SamplesBEC_32
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988002
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