A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15522013



Internal ID5523829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75395933..75396775hg38UCSC Ensembl
Innerchr16:75396083..75396625hg38UCSC Ensembl
Outerchr16:75395783..75396925hg38UCSC Ensembl
chr16:75429831..75430673hg19UCSC Ensembl
Innerchr16:75429981..75430523hg19UCSC Ensembl
Outerchr16:75429681..75430823hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639091
Supporting Variants
SamplesNA19404
Known GenesCFDP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15522013
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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