A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv544e214



Internal ID20121967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80920298..80967278hg38UCSC Ensembl
chr16:80954195..81001175hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3846981
hg1946981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639301, esv3639300
SamplesHG03455, NA19443, HG00335, NA19471, NA19452, NA20276, NA19037, NA19331, NA19334, NA19324, HG03157, NA19351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv544e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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