A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6840113



Internal ID9892898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207509277..207681367hg38UCSC Ensembl
Outerchr1:207682622..207854712hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38172091
hg19172091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722106
Supporting Variants
SamplesSSM084
Known GenesCR1, CR1L
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)essv6840113
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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