A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979495



Internal ID12633588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:316842..850461hg38UCSC Ensembl
Innerchr2:316842..846164hg19UCSC Ensembl
Innerchr2:306842..836164hg18UCSC Ensembl
Innerchr2:306842..836164hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38533620
hg19529323
hg18529323
hg17529323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34786
Supporting Variants
SamplesNA18563
Known GenesLINC01115, TMEM18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979495
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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