A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746808



Internal ID9981092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35888891..35889258hg38UCSC Ensembl
Outerchr1:36354492..36354859hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941809, essv6825002, essv6692795, essv6910069, essv6699614
SamplesSSM039, SSM023, SSM015, SSM080, SSM037
Known GenesAGO1
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)esv2746808
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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