A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756142



Internal ID10002312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79966908..79972928hg38UCSC Ensembl
Outerchr4:80888062..80894082hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg386021
hg196021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727865
Supporting Variants
SamplesSSM008
Known GenesANTXR2
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)essv6756142
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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