A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744974



Internal ID10155935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58980921..58981700hg38UCSC Ensembl
Outerchr1:59446593..59447372hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748830
Supporting Variants
SamplesSSM055
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)essv6744974
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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