A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675709



Internal ID9595128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8375128..8375496hg38UCSC Ensembl
chr19:8440012..8440380hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5781102, essv6111664, essv6454198, essv5413336, essv6478084, essv6125949, essv5505935, essv6241481, essv5818934
SamplesNA19712, NA19904, NA18868, NA18856, NA19835, NA20291, NA19373, NA20317, HG00641
Known GenesRAB11B-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675709
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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