A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643646



Internal ID6683717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9980418..9982054hg38UCSC Ensembl
Innerchr19:9980419..9982053hg38UCSC Ensembl
Outerchr19:9980417..9982055hg38UCSC Ensembl
chr19:10091094..10092730hg19UCSC Ensembl
Innerchr19:10091095..10092729hg19UCSC Ensembl
Outerchr19:10091093..10092731hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381637
hg191637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990284, essv15990285, essv15990283, essv15990286, essv15990282
SamplesNA19319, NA19393, NA19384, HG03073, NA19456
Known GenesCOL5A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643646
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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