A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746785



Internal ID9981069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35888780..35889140hg38UCSC Ensembl
Outerchr1:36354381..36354741hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941809, essv6929083, essv6946516, essv6917459, essv6921746, essv6825002, essv6776958, essv6692795, essv6877065, essv6699614
SamplesSSM024, SSM039, SSM023, SSM018, SSM017, SSM067, SSM020, SSM080, SSM037, SSM012
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)esv2746785
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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