A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981967



Internal ID12627530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:832528..1103206hg38UCSC Ensembl
Innerchr17:735768..1006446hg19UCSC Ensembl
Innerchr17:682518..953196hg18UCSC Ensembl
Innerchr17:682518..953196hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38270679
hg19270679
hg18270679
hg17270679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751769
Supporting Variants
SamplesBEC_51
Known GenesABR, MIR3183, NXN, TIMM22
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981967
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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