A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645294



Internal ID6685356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13849940..13862262hg38UCSC Ensembl
chr20:13830586..13842908hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3812323
hg1912323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144128
SamplesHG03202
Known GenesSEL1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645294
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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