A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759857



Internal ID9820466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94773901..94774254hg38UCSC Ensembl
Outerchr5:94109606..94109959hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730475
Supporting Variants
SamplesSSM061
Known GenesMCTP1
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)essv6759857
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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