A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6968120



Internal ID9730173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226975974..226976413hg38UCSC Ensembl
Outerchr1:227163675..227164114hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724073
Supporting Variants
SamplesSSM028
Known GenesADCK3
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)essv6968120
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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