A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727313



Internal ID10138063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:7502701..7502995hg38UCSC Ensembl
Outerchr7:7542332..7542626hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733937
Supporting Variants
SamplesSSM046
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)essv6727313
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