A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16119035



Internal ID6120851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2148722..2690694hg38UCSC Ensembl
Innerchr20:2148872..2690544hg38UCSC Ensembl
Outerchr20:2148572..2690844hg38UCSC Ensembl
chr20:2129368..2671340hg19UCSC Ensembl
Innerchr20:2129518..2671190hg19UCSC Ensembl
Outerchr20:2129218..2671490hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38541973
hg19541973
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644998
Supporting Variants
SamplesNA19454
Known GenesIDH3B, MIR1292, NOP56, SNORA51, SNORD110, SNORD119, SNORD56, SNORD57, SNORD86, SNRPB, TGM3, TGM6, TMC2, ZNF343
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16119035
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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