A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727936



Internal ID9962248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87197084..87197291hg38UCSC Ensembl
Outerchr4:88118236..88118443hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6708004, essv6679986, essv6848377, essv6777729
SamplesSSM041, SSM067, SSM086, SSM033
Known GenesKLHL8
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)esv2727936
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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