A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638869



Internal ID6678966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66486458..66492245hg38UCSC Ensembl
Innerchr16:66486466..66492238hg38UCSC Ensembl
Outerchr16:66486451..66492253hg38UCSC Ensembl
chr16:66520361..66526148hg19UCSC Ensembl
Innerchr16:66520369..66526141hg19UCSC Ensembl
Outerchr16:66520354..66526156hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg385788
hg195788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15501224, essv15501223, essv15501225, essv15501226
SamplesNA18757, NA18573, NA18640, HG02040
Known GenesBEAN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638869
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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