A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941325



Internal ID9702634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47849258..48460039hg38UCSC Ensembl
Outerchr20:46478002..47088285hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38610782
hg19610284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722468
Supporting Variants
SamplesSSM022
Known GenesLINC00494
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)essv6941325
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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