A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721481



Internal ID9955777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219159339..219159790hg38UCSC Ensembl
Outerchr2:220024061..220024512hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875061, essv6951019, essv6942326, essv6739222
SamplesSSM092, SSM025, SSM023, SSM052
Known GenesNHEJ1
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)esv2721481
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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