A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6736095



Internal ID10145968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:199469651..199471080hg38UCSC Ensembl
Outerchr1:199438779..199440208hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721284
Supporting Variants
SamplesSSM050
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)essv6736095
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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