A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726675



Internal ID10310311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:519744..519955hg38UCSC Ensembl
Outerchr4:513533..513744hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813789, essv6707880, essv6674232, essv6854317, essv6767047
SamplesSSM064, SSM087, SSM041, SSM005, SSM077
Known GenesPIGG
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)esv2726675
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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