A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15372847



Internal ID5374663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9868099..9872727hg38UCSC Ensembl
Innerchr16:9868099..9872727hg38UCSC Ensembl
Outerchr16:9868004..9872805hg38UCSC Ensembl
chr16:9961956..9966584hg19UCSC Ensembl
Innerchr16:9961956..9966584hg19UCSC Ensembl
Outerchr16:9961861..9966662hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg384629
hg194629
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637881
Supporting Variants
SamplesNA19236
Known GenesGRIN2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15372847
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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