A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785910



Internal ID10190801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68508132..68625537hg38UCSC Ensembl
Outerchr4:69373850..69491255hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38117406
hg19117406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727770
Supporting Variants
SamplesSSM069
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)essv6785910
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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