A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6788486



Internal ID10192555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47158320..47171875hg38UCSC Ensembl
Outerchr17:45235686..45249241hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3813556
hg1913556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716008, esv2716003, esv2716005, esv2716001
Supporting Variants
SamplesSSM069
Known GenesCDC27
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6788486
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer