A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638188



Internal ID6678286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21603587..21605255hg38UCSC Ensembl
Innerchr16:21603589..21605254hg38UCSC Ensembl
Outerchr16:21603586..21605257hg38UCSC Ensembl
chr16:21614908..21616576hg19UCSC Ensembl
Innerchr16:21614910..21616575hg19UCSC Ensembl
Outerchr16:21614907..21616578hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381669
hg191669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15416345, essv15416343, essv15416344, essv15416342, essv15416346
SamplesHG03478, NA19315, HG02715, HG03112, HG02760
Known GenesMETTL9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638188
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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