A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727196



Internal ID9790005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110749856..110750359hg38UCSC Ensembl
Outerchr6:111071059..111071562hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732571
Supporting Variants
SamplesSSM046
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)essv6727196
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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