A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645967



Internal ID7032713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47197907..47199853hg38UCSC Ensembl
Innerchr20:47197910..47199851hg38UCSC Ensembl
Outerchr20:47197905..47199856hg38UCSC Ensembl
chr20:45826551..45828497hg19UCSC Ensembl
Innerchr20:45826554..45828495hg19UCSC Ensembl
Outerchr20:45826549..45828500hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381947
hg191947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196964, essv16196963, essv16196962
SamplesHG03577, NA19917, HG03472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645967
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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