A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638554



Internal ID7025339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47317366..47334419hg38UCSC Ensembl
Innerchr16:47317387..47334398hg38UCSC Ensembl
Outerchr16:47317345..47334440hg38UCSC Ensembl
chr16:47351277..47368330hg19UCSC Ensembl
Innerchr16:47351298..47368309hg19UCSC Ensembl
Outerchr16:47351256..47368351hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3817054
hg1917054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472413, essv15472412, essv15472414
SamplesHG02375, HG03604, HG01841
Known GenesITFG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638554
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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