A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986870



Internal ID12633506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75602119..75686819hg38UCSC Ensembl
Innerchr2:75829245..75913945hg19UCSC Ensembl
Innerchr2:75682753..75767453hg18UCSC Ensembl
Innerchr2:75740900..75825600hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3884701
hg1984701
hg1884701
hg1784701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34608
Supporting Variants
SamplesNA18555
Known GenesGCFC2, MRPL19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986870
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