A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730477



Internal ID9964793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95207919..95207970hg38UCSC Ensembl
Outerchr5:94543623..94543674hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670829
SamplesSSM031
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)esv2730477
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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