A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689400



Internal ID9759409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207643925..207750732hg38UCSC Ensembl
Outerchr1:207817270..207924077hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38106808
hg19106808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722117
Supporting Variants
SamplesSSM036
Known GenesCR1L
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)essv6689400
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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