A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859170



Internal ID9914250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6307810..6307863hg38UCSC Ensembl
Outerchr1:6367870..6367923hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740028, esv2739917
Supporting Variants
SamplesSSM088
Known GenesACOT7
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)essv6859170
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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