A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644464



Internal ID6684531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43347354..43354043hg38UCSC Ensembl
Innerchr19:43347354..43354043hg38UCSC Ensembl
Outerchr19:43346854..43354543hg38UCSC Ensembl
chr19:43851506..43858195hg19UCSC Ensembl
Innerchr19:43851506..43858195hg19UCSC Ensembl
Outerchr19:43851006..43858695hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg386690
hg196690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16063065, essv16063066, essv16063063, essv16063064
SamplesHG02284, NA19438, NA20287, NA19473
Known GenesCD177, PRG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644464
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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