A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15362366



Internal ID5364182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1712012..1723067hg38UCSC Ensembl
Innerchr16:1712512..1722567hg38UCSC Ensembl
Outerchr16:1711012..1724067hg38UCSC Ensembl
chr16:1762013..1773068hg19UCSC Ensembl
Innerchr16:1762513..1772568hg19UCSC Ensembl
Outerchr16:1761013..1774068hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811056
hg1911056
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637623
Supporting Variants
SamplesHG01047
Known GenesMAPK8IP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15362366
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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