A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826843



Internal ID10007787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146808919..146815902hg38UCSC Ensembl
Outerchr6:147130055..147137038hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg386984
hg196984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732839
Supporting Variants
SamplesSSM010
Known GenesADGB
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)essv6826843
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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