A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639594



Internal ID7026373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89781630..89782466hg38UCSC Ensembl
Innerchr16:89781680..89782416hg38UCSC Ensembl
Outerchr16:89781580..89782516hg38UCSC Ensembl
chr16:89848038..89848874hg19UCSC Ensembl
Innerchr16:89848088..89848824hg19UCSC Ensembl
Outerchr16:89847988..89848924hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15569850, essv15569852, essv15569851, essv15569849
SamplesHG00109, HG01679, NA06985, HG02282
Known GenesFANCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639594
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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