A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742130



Internal ID10151561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9786507..9796612hg38UCSC Ensembl
Outerchr1:9846565..9856670hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3810106
hg1910106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743630
Supporting Variants
SamplesSSM053
Known GenesCLSTN1
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)essv6742130
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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