A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748373



Internal ID9810170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68508128..68625354hg38UCSC Ensembl
Outerchr4:69373846..69491072hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38117227
hg19117227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727770
Supporting Variants
SamplesSSM056
Known GenesUGT2B17
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)essv6748373
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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