A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797040



Internal ID10198236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63037735..63038096hg38UCSC Ensembl
Outerchr20:61669087..61669448hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722869, esv2722867
Supporting Variants
SamplesSSM071
Known GenesLINC01056, LOC63930
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)essv6797040
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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