A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745230



Internal ID9979514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22658415..22659218hg38UCSC Ensembl
Outerchr1:22984908..22985711hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972360, essv6839982, essv6967938, essv6961570, essv6941794
SamplesSSM027, SSM023, SSM028, SSM084, SSM029
Known GenesC1QB
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)esv2745230
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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