A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978017



Internal ID12978498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10207016..10243637hg38UCSC Ensembl
Innerchr2:10347142..10383763hg19UCSC Ensembl
Innerchr2:10264593..10301214hg18UCSC Ensembl
Innerchr2:10297740..10334361hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3836622
hg1936622
hg1836622
hg1736622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35171
Supporting Variants
SamplesNA10857
Known GenesC2orf48
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978017
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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