A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741631



Internal ID10295747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25808087..25808647hg38UCSC Ensembl
Outerchr1:26134578..26135138hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14e201
Supporting Variantsessv6769534
SamplesSSM065
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)esv2741631
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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