A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946516



Internal ID9710756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35888870..35889094hg38UCSC Ensembl
Outerchr1:36354471..36354695hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746796, esv2746785
Supporting Variants
SamplesSSM024
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)essv6946516
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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