A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604943



Internal ID6991971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45191726..45221278hg38UCSC Ensembl
chr5:45191828..45221380hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3829553
hg1929553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1099e214
Supporting Variantsessv11890982, essv11890979, essv11890980, essv11890981, essv11890983, essv11890978
SamplesHG03298, NA18878, NA19189, HG03225, HG03136, HG01883
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604943
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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