A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718418



Internal ID9952709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155562286..155688336hg38UCSC Ensembl
Outerchr1:155532077..155658127hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38126051
hg19126051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756635, essv6764245
SamplesSSM059, SSM063
Known GenesASH1L, ASH1L-AS1, MSTO1, MSTO2P, YY1AP1
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)esv2718418
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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