A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734416



Internal ID9797079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110749852..110750336hg38UCSC Ensembl
Outerchr6:111071055..111071539hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732571
Supporting Variants
SamplesSSM049
Known GenesCDK19
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)essv6734416
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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