A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927473



Internal ID9640993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24811750..24817777hg38UCSC Ensembl
Outerchr6:24811978..24818005hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386028
hg196028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731716
Supporting Variants
SamplesSSM003
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)essv6927473
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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