A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733168



Internal ID9967490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166162358..166163084hg38UCSC Ensembl
Outerchr6:166575846..166576572hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6757502, essv6790644, essv6957237, essv6975023
SamplesSSM059, SSM029, SSM026, SSM070
Known GenesT
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)esv2733168
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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