A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823374



Internal ID9877833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110720493..110720928hg38UCSC Ensembl
Outerchr10:112480251..112480686hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740829, esv2740840, esv2740862
Supporting Variants
SamplesSSM079
Known GenesRBM20
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)essv6823374
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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