A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984977



Internal ID12637146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46066848..46719411hg38UCSC Ensembl
Innerchr17:44144214..44796777hg19UCSC Ensembl
Innerchr17:41500036..42151961hg18UCSC Ensembl
Innerchr17:41500036..42151961hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38652564
hg19652564
hg18651926
hg17651926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751697
Supporting Variants
SamplesSPC_25
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984977
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