A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745795



Internal ID10155707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115842095..115870018hg38UCSC Ensembl
Outerchr5:115177792..115205715hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3827924
hg1927924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730625
Supporting Variants
SamplesSSM055
Known GenesAP3S1
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)essv6745795
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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