A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694195



Internal ID10108743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72941718..72941823hg38UCSC Ensembl
Outerchr6:73651441..73651546hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732283, esv2732282
Supporting Variants
SamplesSSM037
Known GenesKCNQ5
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)essv6694195
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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