A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646061



Internal ID7032806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51244442..51246854hg38UCSC Ensembl
Innerchr20:51244443..51246853hg38UCSC Ensembl
Outerchr20:51244441..51246855hg38UCSC Ensembl
chr20:49860979..49863391hg19UCSC Ensembl
Innerchr20:49860980..49863390hg19UCSC Ensembl
Outerchr20:49860978..49863392hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382413
hg192413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199541, essv16199542
SamplesHG01075, NA20826
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646061
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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