A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591733



Internal ID6632017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99188786..99200550hg38UCSC Ensembl
chr2:99805249..99817013hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3811765
hg1911765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10593964
SamplesHG01286
Known GenesMRPL30
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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