A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869924



Internal ID10266415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:7465077..7471215hg38UCSC Ensembl
Outerchr7:7504708..7510846hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg386139
hg196139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733936
Supporting Variants
SamplesSSM090
Known GenesCOL28A1
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)essv6869924
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