A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643643



Internal ID7030402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9819424..9820691hg38UCSC Ensembl
Innerchr19:9819424..9820691hg38UCSC Ensembl
Outerchr19:9819121..9820903hg38UCSC Ensembl
chr19:9930100..9931367hg19UCSC Ensembl
Innerchr19:9930100..9931367hg19UCSC Ensembl
Outerchr19:9929797..9931579hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990249, essv15990253, essv15990250, essv15990248, essv15990252, essv15990251
SamplesHG00559, HG02078, HG02131, NA18560, HG01861, HG00437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643643
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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