A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978993



Internal ID12632760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45408425..45582609hg38UCSC Ensembl
Innerchr17:43485791..43659975hg19UCSC Ensembl
Innerchr17:40841574..41015758hg18UCSC Ensembl
Innerchr17:40841574..41015758hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38174185
hg19174185
hg18174185
hg17174185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35084
Supporting Variants
SamplesNA12814
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)essv6978993
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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