A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727162



Internal ID9961470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246003569..246004345hg38UCSC Ensembl
Outerchr1:246166871..246167647hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864212, essv6747957, essv6847354, essv6736146, essv6769736
SamplesSSM065, SSM050, SSM089, SSM086, SSM056
Known GenesSMYD3
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)esv2727162
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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