A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730855



Internal ID9965172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143282546..143283397hg38UCSC Ensembl
Outerchr5:142662111..142662962hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734239, essv6754391, essv6751460
SamplesSSM057, SSM058, SSM049
Known GenesNR3C1
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)esv2730855
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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