A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591812



Internal ID6979140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103779606..103797086hg38UCSC Ensembl
chr2:104396064..104413544hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3817481
hg1917481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598583
SamplesNA19099
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591812
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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