A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733114



Internal ID9967436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163322816..163323010hg38UCSC Ensembl
Outerchr6:163743848..163744042hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1033e201
Supporting Variantsessv6822569, essv6727247, essv6705158, essv6774699, essv6899805
SamplesSSM100, SSM046, SSM079, SSM066, SSM040
Known GenesPACRG-AS1
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)esv2733114
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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