A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15377416



Internal ID1083563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12244394..12249679hg38UCSC Ensembl
Innerchr16:12244425..12249648hg38UCSC Ensembl
Outerchr16:12244363..12249710hg38UCSC Ensembl
chr16:12338251..12343536hg19UCSC Ensembl
Innerchr16:12338282..12343505hg19UCSC Ensembl
Outerchr16:12338220..12343567hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg385286
hg195286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637956
Supporting Variants
SamplesHG00705
Known GenesSNX29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15377416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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