A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646275



Internal ID7033020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61692678..61722292hg38UCSC Ensembl
Innerchr20:61692828..61722142hg38UCSC Ensembl
Outerchr20:61692528..61722442hg38UCSC Ensembl
chr20:60267734..60297348hg19UCSC Ensembl
Innerchr20:60267884..60297198hg19UCSC Ensembl
Outerchr20:60267584..60297498hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3829615
hg1929615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16220409, essv16220408
SamplesHG03986, HG03781
Known GenesCDH4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646275
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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