A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667208



Internal ID9933313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:691550..692081hg38UCSC Ensembl
Outerchr19:691511..692138hg38UCSC Ensembl
Innerchr19:691550..692081hg19UCSC Ensembl
Outerchr19:691511..692138hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38628
hg19628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5560319, essv6334963, essv6101774, essv5559004, essv5843236, essv6579114, essv5840921, essv5472865, essv6434452, essv6208125
SamplesNA11933, NA12750, NA12155, NA19916, NA11918, NA11994, NA20760, NA12829, NA19093, NA18552
Known GenesPRSS57
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667208
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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