A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805820



Internal ID9638782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89010187..89012782hg38UCSC Ensembl
Outerchr1:89475870..89478465hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382596
hg192596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714551
Supporting Variants
SamplesSSM002
Known GenesGBP3
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)essv6805820
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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