A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757500



Internal ID9819217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161262911..161263217hg38UCSC Ensembl
Outerchr6:161683943..161684249hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733074
Supporting Variants
SamplesSSM059
Known GenesAGPAT4
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)essv6757500
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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