A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734429



Internal ID10143753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133833154..133833777hg38UCSC Ensembl
Outerchr6:134154292..134154915hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732724
Supporting Variants
SamplesSSM049
Known GenesMGC34034
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)essv6734429
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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