A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682968



Internal ID9753114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:215021287..215021429hg38UCSC Ensembl
Outerchr1:215194630..215194772hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722695
Supporting Variants
SamplesSSM034
Known GenesKCNK2
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)essv6682968
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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