A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989158



Internal ID12978078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83066218..83595918hg38UCSC Ensembl
Innerchr2:83293342..83823042hg19UCSC Ensembl
Innerchr2:83146853..83676553hg18UCSC Ensembl
Innerchr2:83205000..83734700hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38529701
hg19529701
hg18529701
hg17529701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34966
Supporting Variants
SamplesNA06985
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989158
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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