A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441718



Internal ID1333696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29706792..29711446hg38UCSC Ensembl
Innerchr16:29706853..29711385hg38UCSC Ensembl
Outerchr16:29706731..29711507hg38UCSC Ensembl
chr16:29718113..29722767hg19UCSC Ensembl
Innerchr16:29718174..29722706hg19UCSC Ensembl
Outerchr16:29718052..29722828hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384655
hg194655
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638371
Supporting Variants
SamplesHG01174
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441718
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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