A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733266



Internal ID10316902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167976157..167976787hg38UCSC Ensembl
Outerchr6:168376837..168377467hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915188, essv6680526, essv6687379, essv6715679, essv6837574, essv6969521, essv6690601, essv6930599, essv6671350, essv6939171, essv6711975, essv6826553, essv6727257, essv6701248, essv6918980, essv6731014, essv6676718
SamplesSSM036, SSM083, SSM046, SSM039, SSM042, SSM028, SSM047, SSM017, SSM035, SSM032, SSM031, SSM033, SSM020, SSM016, SSM080, SSM022, SSM043
Known GenesHGC6.3
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)esv2733266
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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