A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730402



Internal ID10314038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:83675969..83676374hg38UCSC Ensembl
Outerchr5:82971788..82972193hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826175, essv6911111, essv6670810
SamplesSSM031, SSM015, SSM080
Known GenesHAPLN1
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)esv2730402
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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