A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6889665



Internal ID10013238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:7465086..7471228hg38UCSC Ensembl
Outerchr7:7504717..7510859hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg386143
hg196143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733936
Supporting Variants
SamplesSSM012
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)essv6889665
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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