A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639524



Internal ID6679616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87708543..87709175hg38UCSC Ensembl
Innerchr16:87708560..87709159hg38UCSC Ensembl
Outerchr16:87708527..87709192hg38UCSC Ensembl
chr16:87742149..87742781hg19UCSC Ensembl
Innerchr16:87742166..87742765hg19UCSC Ensembl
Outerchr16:87742133..87742798hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15555204, essv15555203, essv15555205
SamplesNA12414, NA12829, HG00263
Known GenesKLHDC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639524
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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