A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860963



Internal ID9912636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117924054..117924147hg38UCSC Ensembl
Outerchr6:118245217..118245310hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732619, esv2732622, esv2732616, esv2732621
Supporting Variants
SamplesSSM088
Known GenesSLC35F1
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)essv6860963
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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