A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929253



Internal ID10039198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230335185..230335542hg38UCSC Ensembl
Outerchr1:230470931..230471288hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724683
Supporting Variants
SamplesSSM020
Known GenesPGBD5
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)essv6929253
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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