A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594807



Internal ID6982127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240673718..240711894hg38UCSC Ensembl
chr2:241613135..241651311hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3838177
hg1938177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10890974, essv10890973
SamplesHG04029, HG03681
Known GenesAQP12A, AQP12B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594807
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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