A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774690



Internal ID10180704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157278897..157282335hg38UCSC Ensembl
Outerchr6:157699929..157703367hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg383439
hg193439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732971
Supporting Variants
SamplesSSM066
Known Genes
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)essv6774690
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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