A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824365



Internal ID9660878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94773908..94774233hg38UCSC Ensembl
Outerchr5:94109613..94109938hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730475
Supporting Variants
SamplesSSM010
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)essv6824365
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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