A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6878245



Internal ID10273903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68569017..68671297hg38UCSC Ensembl
Outerchr4:69434735..69537015hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38102281
hg19102281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2742505
Supporting Variants
SamplesSSM093
Known GenesUGT2B15
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)essv6878245
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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