A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981838



Internal ID12627327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20559595..21007095hg38UCSC Ensembl
Innerchr17:20462908..20910408hg19UCSC Ensembl
Innerchr17:20403500..20851000hg18UCSC Ensembl
Innerchr17:20403500..20851000hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38447501
hg19447501
hg18447501
hg17447501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751619
Supporting Variants
SamplesBEC_492
Known GenesCCDC144NL, CDRT15L2, LOC100287072, LOC440416, USP22
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981838
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