A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987744



Internal ID12978075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83066256..83595902hg38UCSC Ensembl
Innerchr2:83293380..83823026hg19UCSC Ensembl
Innerchr2:83146891..83676537hg18UCSC Ensembl
Innerchr2:83205038..83734684hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38529647
hg19529647
hg18529647
hg17529647
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)essv6987744
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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