A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978698



Internal ID12632287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46443010..46512010hg38UCSC Ensembl
Innerchr2:46670149..46739149hg19UCSC Ensembl
Innerchr2:46523653..46592653hg18UCSC Ensembl
Innerchr2:46581800..46650800hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3869001
hg1969001
hg1869001
hg1769001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34650
Supporting Variants
SamplesNA12146
Known GenesATP6V1E2, TMEM247
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978698
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