A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722419



Internal ID10306055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41342489..41342902hg38UCSC Ensembl
Outerchr20:39971129..39971542hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843398, essv6960819
SamplesSSM084, SSM026
Known GenesLPIN3
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)esv2722419
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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