A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665463



Internal ID9931568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18935820..18936437hg38UCSC Ensembl
chr19:19046629..19047246hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38618
hg19618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5470266, essv5837973, essv6114376, essv6045415, essv6345393, essv5515889, essv6562297, essv6421189, essv6328479, essv6400599, essv5793702, essv6271129, essv6058213, essv6213556, essv5408932, essv6045006, essv6226557, essv5851223, essv5629113, essv5435088, essv5631311, essv5822129, essv6077312, essv6394238, essv5878852, essv5624476, essv5586408, essv6389169, essv6562220, essv6208123, essv5603771, essv6259044
SamplesHG00318, HG01465, NA12400, NA20771, HG00251, HG01351, HG01067, NA11831, NA19657, HG01384, NA20505, HG00320, HG01498, HG00239, NA19774, NA12829, HG00321, NA19756, HG00141, HG00126, HG00353, HG00357, HG00237, NA19786, HG00267, HG00174, HG00280, NA19726, NA19661, HG01082, NA20585, NA20509
Known GenesHOMER3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665463
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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