A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15379379



Internal ID5381195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14455611..14456750hg38UCSC Ensembl
Innerchr16:14455612..14456750hg38UCSC Ensembl
Outerchr16:14455611..14456751hg38UCSC Ensembl
chr16:14549468..14550607hg19UCSC Ensembl
Innerchr16:14549469..14550607hg19UCSC Ensembl
Outerchr16:14549468..14550608hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381140
hg191140
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638008
Supporting Variants
SamplesHG00867
Known GenesPARN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15379379
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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