A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6875800



Internal ID9925017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110749856..110750338hg38UCSC Ensembl
Outerchr6:111071059..111071541hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732571
Supporting Variants
SamplesSSM092
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)essv6875800
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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