A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984551



Internal ID12630485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21605541..22605746hg38UCSC Ensembl
Innerchr17:21508807..22105073hg19UCSC Ensembl
Innerchr17:21449400..22029200hg18UCSC Ensembl
Innerchr17:21449400..22029200hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381000206
hg19596267
hg18579801
hg17579801
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984551
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