A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15404976



Internal ID6738800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20688943..20691288hg38UCSC Ensembl
Innerchr16:20688979..20691253hg38UCSC Ensembl
Outerchr16:20688908..20691324hg38UCSC Ensembl
chr16:20700265..20702610hg19UCSC Ensembl
Innerchr16:20700301..20702575hg19UCSC Ensembl
Outerchr16:20700230..20702646hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382346
hg192346
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638152
Supporting Variants
SamplesNA20859
Known GenesACSM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15404976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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