A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645092



Internal ID7031843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5180271..5181132hg38UCSC Ensembl
Innerchr20:5180271..5181132hg38UCSC Ensembl
Outerchr20:5180199..5181230hg38UCSC Ensembl
chr20:5160917..5161778hg19UCSC Ensembl
Innerchr20:5160917..5161778hg19UCSC Ensembl
Outerchr20:5160845..5161876hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16126303, essv16126306, essv16126304, essv16126305
SamplesHG02419, NA19374, NA19707, NA20282
Known GenesCDS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645092
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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