A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441728



Internal ID2267093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29882924..29884617hg38UCSC Ensembl
Innerchr16:29882960..29884581hg38UCSC Ensembl
Outerchr16:29882888..29884653hg38UCSC Ensembl
chr16:29894245..29895938hg19UCSC Ensembl
Innerchr16:29894281..29895902hg19UCSC Ensembl
Outerchr16:29894209..29895974hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381694
hg191694
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638375
Supporting Variants
SamplesHG02026
Known GenesSEZ6L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441728
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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