A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6829319



Internal ID10229870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144804606..144813088hg38UCSC Ensembl
Outerchr2:91751072..91759558hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg388483
hg198487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720394
Supporting Variants
SamplesSSM081
Known Genes
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)essv6829319
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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