A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15520461



Internal ID5522277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75393587..75398908hg38UCSC Ensembl
Innerchr16:75393635..75398860hg38UCSC Ensembl
Outerchr16:75393539..75398956hg38UCSC Ensembl
chr16:75427485..75432806hg19UCSC Ensembl
Innerchr16:75427533..75432758hg19UCSC Ensembl
Outerchr16:75427437..75432854hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg385322
hg195322
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639090
Supporting Variants
SamplesHG01702
Known GenesCFDP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15520461
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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