A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982836



Internal ID12628946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31449143..31472775hg38UCSC Ensembl
Innerchr6:31416920..31440552hg19UCSC Ensembl
Innerchr6:31524899..31548531hg18UCSC Ensembl
Innerchr6:31524899..31548531hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3823633
hg1923633
hg1823633
hg1723633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752123
Supporting Variants
SamplesBEC_603
Known GenesHCG26, HCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982836
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