A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15431287



Internal ID5433103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25218666..25219833hg38UCSC Ensembl
Innerchr16:25218679..25219820hg38UCSC Ensembl
Outerchr16:25218653..25219846hg38UCSC Ensembl
chr16:25229987..25231154hg19UCSC Ensembl
Innerchr16:25230000..25231141hg19UCSC Ensembl
Outerchr16:25229974..25231167hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638272
Supporting Variants
SamplesHG02570
Known GenesAQP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15431287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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