A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978207



Internal ID12981592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:789280..937565hg38UCSC Ensembl
Innerchr17:692520..840805hg19UCSC Ensembl
Innerchr17:639270..787555hg18UCSC Ensembl
Innerchr17:639270..787555hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38148286
hg19148286
hg18148286
hg17148286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35056
Supporting Variants
SamplesNA18978
Known GenesNXN, RNMTL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978207
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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