A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364051



Internal ID1101957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5074968..5094337hg38UCSC Ensembl
Innerchr16:5075007..5094299hg38UCSC Ensembl
Outerchr16:5074930..5094376hg38UCSC Ensembl
chr16:5124969..5144338hg19UCSC Ensembl
Innerchr16:5125008..5144300hg19UCSC Ensembl
Outerchr16:5124931..5144377hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819370
hg1919370
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637718
Supporting Variants
SamplesHG00732
Known GenesALG1, FAM86A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364051
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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