A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15359748



Internal ID2451068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1341466..1345103hg38UCSC Ensembl
Innerchr16:1341479..1345090hg38UCSC Ensembl
Outerchr16:1341453..1345116hg38UCSC Ensembl
chr16:1391467..1395104hg19UCSC Ensembl
Innerchr16:1391480..1395091hg19UCSC Ensembl
Outerchr16:1391454..1395117hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383638
hg193638
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637613
Supporting Variants
SamplesHG02154
Known GenesBAIAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15359748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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