A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6726488



Internal ID9997731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3499243..3499525hg38UCSC Ensembl
Outerchr5:3499357..3499639hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729641
Supporting Variants
SamplesSSM007
Known GenesLINC01019, LOC102467075
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)essv6726488
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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