A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668472



Internal ID9934577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42814907..42983514hg38UCSC Ensembl
chr19:43319059..43487666hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38168608
hg19168608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5434695, essv6105394, essv5739974
SamplesNA20766, NA19088, HG00140
Known GenesLOC100289650, PSG1, PSG10P, PSG6, PSG7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668472
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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