A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594168



Internal ID6981488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211222436..211232735hg38UCSC Ensembl
Innerchr2:211222436..211232735hg38UCSC Ensembl
Outerchr2:211221936..211233235hg38UCSC Ensembl
chr2:212087161..212097460hg19UCSC Ensembl
Innerchr2:212087161..212097460hg19UCSC Ensembl
Outerchr2:212086661..212097960hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3810300
hg1910300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10835574, essv10835573
SamplesHG02151, HG01866
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594168
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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