A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733075



Internal ID9967397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161263073..161263203hg38UCSC Ensembl
Outerchr6:161684105..161684235hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963938, essv6849333, essv6855417
SamplesSSM027, SSM086, SSM087
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)esv2733075
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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