A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15483317



Internal ID2376463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56620906..56621894hg38UCSC Ensembl
Innerchr16:56620906..56621894hg38UCSC Ensembl
Outerchr16:56620695..56622149hg38UCSC Ensembl
chr16:56654818..56655806hg19UCSC Ensembl
Innerchr16:56654818..56655806hg19UCSC Ensembl
Outerchr16:56654607..56656061hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38989
hg19989
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638700
Supporting Variants
SamplesHG02107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15483317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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