A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764245



Internal ID9825880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155562393..155687970hg38UCSC Ensembl
Outerchr1:155532184..155657761hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38125578
hg19125578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718418
Supporting Variants
SamplesSSM063
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)essv6764245
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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