A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364005



Internal ID5365821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5057075..5061558hg38UCSC Ensembl
Innerchr16:5057575..5061058hg38UCSC Ensembl
Outerchr16:5056075..5062558hg38UCSC Ensembl
chr16:5107076..5111559hg19UCSC Ensembl
Innerchr16:5107576..5111059hg19UCSC Ensembl
Outerchr16:5106076..5112559hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637717
Supporting Variants
SamplesHG00625
Known GenesC16orf89
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364005
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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