A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731719



Internal ID9966037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24926892..24927156hg38UCSC Ensembl
Outerchr6:24927120..24927384hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790437, essv6926715, essv6893437, essv6671030, essv6730801, essv6911251, essv6974675, essv6956899
SamplesSSM047, SSM029, SSM026, SSM019, SSM031, SSM015, SSM070, SSM098
Known GenesFAM65B
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)esv2731719
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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