A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638374



Internal ID6678472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29881201..29882765hg38UCSC Ensembl
Innerchr16:29881201..29882765hg38UCSC Ensembl
Outerchr16:29881134..29882826hg38UCSC Ensembl
chr16:29892522..29894086hg19UCSC Ensembl
Innerchr16:29892522..29894086hg19UCSC Ensembl
Outerchr16:29892455..29894147hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441723, essv15441724, essv15441725
SamplesHG02026, HG02061, HG02049
Known GenesSEZ6L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638374
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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