A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980211



Internal ID12634761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45393394..45581971hg38UCSC Ensembl
Innerchr17:43470760..43659337hg19UCSC Ensembl
Innerchr17:40826543..41015120hg18UCSC Ensembl
Innerchr17:40826543..41015120hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38188578
hg19188578
hg18188578
hg17188578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34266
Supporting Variants
SamplesNA18969
Known GenesARHGAP27, LRRC37A4P, MIR4315-1, MIR4315-2, PLEKHM1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980211
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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