A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987621



Internal ID12630489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22206067..22646146hg38UCSC Ensembl
Innerchr17:21732673..22145473hg19UCSC Ensembl
Innerchr17:21656800..22069600hg18UCSC Ensembl
Innerchr17:21656800..22069600hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38440080
hg19412801
hg18412801
hg17412801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751621
Supporting Variants
SamplesBEC_718
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987621
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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