A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323849



Internal ID14824130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111489660..111489670hg38UCSC Ensembl
Innerchr1:111489652..111489676hg38UCSC Ensembl
Outerchr1:111489642..111489688hg38UCSC Ensembl
chr1:112032282..112032292hg19UCSC Ensembl
Innerchr1:112032274..112032298hg19UCSC Ensembl
Outerchr1:112032264..112032310hg19UCSC Ensembl
chr1:111833805..111833815hg18UCSC Ensembl
Innerchr1:111833821..111833797hg18UCSC Ensembl
Outerchr1:111833787..111833833hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901018, essv8901038, essv8901045, essv8901032, essv8901020, essv8901041, essv8901035, essv8901034, essv8901023, essv8901036, essv8901033, essv8901025, essv8901024, essv8901016, essv8901030, essv8901042, essv8901017, essv8901022, essv8901021, essv8901027, essv8901040, essv8901046, essv8901028, essv8901014, essv8901044, essv8901013, essv8901031, essv8901039, essv8901019, essv8901029, essv8901043, essv8901012
SamplesNA18947, NA18861, NA18592, NA18561, NA18603, NA18870, NA18563, NA18940, NA18519, NA18558, NA18638, NA18516, NA18871, NA18948, NA18537, NA19114, NA18912, NA18532, NA19099, NA18555, NA19225, NA18945, NA18608, NA07051, NA18943, NA18609, NA19102, NA18505, NA19129, NA18511, NA18562, NA18965
Known GenesADORA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323849
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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