A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6769654



Internal ID9829485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:177962903..177963522hg38UCSC Ensembl
Outerchr1:177932038..177932657hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719829
Supporting Variants
SamplesSSM065
Known GenesSEC16B
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)essv6769654
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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