A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818249



Internal ID9874253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:57048287..57091703hg38UCSC Ensembl
Outerchr6:56913085..56956501hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3843417
hg1943417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732127
Supporting Variants
SamplesSSM078
Known GenesKIAA1586, ZNF451
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)essv6818249
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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