A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916830



Internal ID9986722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25808144..25808545hg38UCSC Ensembl
Outerchr1:26134635..26135036hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745641
Supporting Variants
SamplesSSM003
Known GenesSEPN1
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)essv6916830
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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