A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592858



Internal ID6980185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149140726..149157730hg38UCSC Ensembl
chr2:149997240..150014244hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3817005
hg1917005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10708787, essv10708789, essv10708786, essv10708788
SamplesNA19355, HG02485, HG02502, HG01685
Known GenesLYPD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592858
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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