A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826312



Internal ID9880477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24811749..24817755hg38UCSC Ensembl
Outerchr6:24811977..24817983hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731716
Supporting Variants
SamplesSSM080
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)essv6826312
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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