A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501606



Internal ID5503422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68004075..68045657hg38UCSC Ensembl
Innerchr16:68004575..68045157hg38UCSC Ensembl
Outerchr16:68003075..68046657hg38UCSC Ensembl
chr16:68037978..68079560hg19UCSC Ensembl
Innerchr16:68038478..68079060hg19UCSC Ensembl
Outerchr16:68036978..68080560hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3841583
hg1941583
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638897
Supporting Variants
SamplesHG00437
Known GenesDDX28, DUS2, LOC100131303
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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