A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15566719



Internal ID5568535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88641322..88654848hg38UCSC Ensembl
Innerchr16:88641322..88654848hg38UCSC Ensembl
Outerchr16:88641202..88654983hg38UCSC Ensembl
chr16:88707730..88721256hg19UCSC Ensembl
Innerchr16:88707730..88721256hg19UCSC Ensembl
Outerchr16:88707610..88721391hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3813527
hg1913527
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639554
Supporting Variants
SamplesHG01944
Known GenesCYBA, MVD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15566719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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