A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675899



Internal ID9595318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49049435..49056072hg38UCSC Ensembl
chr19:49552692..49559329hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386638
hg196638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5687351, essv6383460, essv6235311
SamplesNA20535, HG00331, NA12889
Known GenesCGB7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675899
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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