A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34307



Internal ID12643660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45393394..45589540hg38UCSC Ensembl
Innerchr17:43470760..43666906hg19UCSC Ensembl
Innerchr17:40826543..41022689hg18UCSC Ensembl
Innerchr17:40826543..41022689hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38196147
hg19196147
hg18196147
hg17196147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv123e55
Supporting Variantsessv6987762, essv6980315
SamplesNA07034
Known GenesARHGAP27, LRRC37A4P, MIR4315-1, MIR4315-2, PLEKHM1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34307
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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