A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677216



Internal ID9943321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119917784..119920003hg38UCSC Ensembl
chr12:120355588..120357807hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382220
hg192220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6150184, essv5552549, essv6023262, essv5837724, essv5797224, essv6551696, essv6255503, essv6356271, essv5450798, essv5614983, essv5507312, essv6586815, essv5428062, essv5830064, essv6486364, essv6513553, essv6343866, essv6007313, essv5745712, essv6226458, essv6301995, essv5485325, essv5666859, essv6392183, essv5704037, essv6396146
SamplesNA18947, NA12045, NA18486, NA12004, NA19377, NA19190, NA19098, NA18940, NA11918, NA07347, NA19138, NA11994, NA19207, HG01198, NA19239, NA19455, NA19449, NA12892, NA18853, NA19099, NA19147, NA19144, NA18943, NA19129, NA18511, NA12776
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677216
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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