A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751460



Internal ID9812694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143282546..143283190hg38UCSC Ensembl
Outerchr5:142662111..142662755hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730855
Supporting Variants
SamplesSSM057
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)essv6751460
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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