A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983346



Internal ID12629459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74667628hg38UCSC Ensembl
Innerchr17:71834001..72663767hg19UCSC Ensembl
Innerchr17:69345596..70175362hg18UCSC Ensembl
Innerchr17:69345596..70175362hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38829767
hg19829767
hg18829767
hg17829767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751770
Supporting Variants
SamplesBEC_641
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RPL38, TTYH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983346
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