A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988654



Internal ID12976098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22190839..22605783hg38UCSC Ensembl
Innerchr17:21717445..22105110hg19UCSC Ensembl
Innerchr17:21641572..22029237hg18UCSC Ensembl
Innerchr17:21641572..22029237hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38414945
hg19387666
hg18387666
hg17387666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751622
Supporting Variants
SamplesBEC_637
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988654
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer