A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638050



Internal ID6678148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16008227..16214274hg38UCSC Ensembl
Innerchr16:16008377..16214124hg38UCSC Ensembl
Outerchr16:16008077..16214424hg38UCSC Ensembl
chr16:16102084..16308131hg19UCSC Ensembl
Innerchr16:16102234..16307981hg19UCSC Ensembl
Outerchr16:16101934..16308281hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38206048
hg19206048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15385801, essv15385799, essv15385802, essv15385800
SamplesHG00334, HG03949, HG03072, HG03890
Known GenesABCC1, ABCC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638050
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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