A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727491



Internal ID10311127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42554655..42555357hg38UCSC Ensembl
Outerchr4:42556672..42557374hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715011, essv6883420
SamplesSSM043, SSM012
Known GenesATP8A1
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)esv2727491
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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