A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590824



Internal ID6978152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53386614..53461856hg38UCSC Ensembl
Innerchr2:53386614..53461856hg38UCSC Ensembl
Outerchr2:53386114..53462356hg38UCSC Ensembl
chr2:53613752..53688994hg19UCSC Ensembl
Innerchr2:53613752..53688994hg19UCSC Ensembl
Outerchr2:53613252..53689494hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3875243
hg1975243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10507869
SamplesHG01277
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590824
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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