A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764248



Internal ID10172569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157204084..157205602hg38UCSC Ensembl
Outerchr1:157173874..157175392hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718485
Supporting Variants
SamplesSSM063
Known Genes
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)essv6764248
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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