A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731774



Internal ID3282270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29795353..29795819hg38UCSC Ensembl
Outerchr6:29763130..29763596hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974686, essv6690362, essv6770730, essv6711770, essv6818148, essv6677733, essv6703232, essv6730810, essv6700993, essv6887511, essv6934642, essv6754470, essv6855143
SamplesSSM065, SSM006, SSM036, SSM042, SSM078, SSM039, SSM005, SSM012, SSM029, SSM047, SSM021, SSM087, SSM058
Known GenesLOC554223
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)esv2731774
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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