A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843998



Internal ID9663172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40642756..40642886hg38UCSC Ensembl
Outerchr1:41108428..41108558hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747397
Supporting Variants
SamplesSSM011
Known GenesRIMS3
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)essv6843998
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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