A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733617



Internal ID10144484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223636535..223637114hg38UCSC Ensembl
Outerchr1:223824237..223824816hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741304
Supporting Variants
SamplesSSM049
Known GenesCAPN8
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)essv6733617
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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