A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15378656



Internal ID5380472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14240775..14243608hg38UCSC Ensembl
Innerchr16:14240775..14243608hg38UCSC Ensembl
Outerchr16:14240667..14243706hg38UCSC Ensembl
chr16:14334632..14337465hg19UCSC Ensembl
Innerchr16:14334632..14337465hg19UCSC Ensembl
Outerchr16:14334524..14337563hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382834
hg192834
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637999
Supporting Variants
SamplesHG02384
Known GenesMKL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15378656
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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