A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15431137



Internal ID5432953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24918495..24924529hg38UCSC Ensembl
Innerchr16:24918502..24924523hg38UCSC Ensembl
Outerchr16:24918489..24924536hg38UCSC Ensembl
chr16:24929816..24935850hg19UCSC Ensembl
Innerchr16:24929823..24935844hg19UCSC Ensembl
Outerchr16:24929810..24935857hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg386035
hg196035
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638261
Supporting Variants
SamplesNA20541
Known GenesARHGAP17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15431137
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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