A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501222



Internal ID1538684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66414616..66415095hg38UCSC Ensembl
Innerchr16:66414631..66415080hg38UCSC Ensembl
Outerchr16:66414601..66415110hg38UCSC Ensembl
chr16:66448519..66448998hg19UCSC Ensembl
Innerchr16:66448534..66448983hg19UCSC Ensembl
Outerchr16:66448504..66449013hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638868
Supporting Variants
SamplesHG01413
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501222
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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