A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590745



Internal ID6631030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:51071287..51110515hg38UCSC Ensembl
chr2:51298425..51337653hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3839229
hg1939229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10502041, essv10502044, essv10502043, essv10502042
SamplesHG02497, NA19223, NA20334, NA20827
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590745
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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