A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644507



Internal ID6684574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45533027..45534790hg38UCSC Ensembl
Innerchr19:45533086..45534732hg38UCSC Ensembl
Outerchr19:45532969..45534849hg38UCSC Ensembl
chr19:46036285..46038048hg19UCSC Ensembl
Innerchr19:46036344..46037990hg19UCSC Ensembl
Outerchr19:46036227..46038107hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381764
hg191764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16066542
SamplesHG01806
Known GenesOPA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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