A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742674



Internal ID10151974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6170258..6171179hg38UCSC Ensembl
Outerchr4:6171985..6172906hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726989
Supporting Variants
SamplesSSM053
Known GenesJAKMIP1
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)essv6742674
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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