A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404887



Internal ID14905163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62108315..62108356hg38UCSC Ensembl
Innerchr1:62108333..62108338hg38UCSC Ensembl
Outerchr1:62108297..62108374hg38UCSC Ensembl
chr1:62573987..62574028hg19UCSC Ensembl
Innerchr1:62574005..62574010hg19UCSC Ensembl
Outerchr1:62573969..62574046hg19UCSC Ensembl
chr1:62346575..62346616hg18UCSC Ensembl
Innerchr1:62346593..62346598hg18UCSC Ensembl
Outerchr1:62346557..62346634hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899166, essv8899164, essv8899167, essv8899171, essv8899169, essv8899163, essv8899165, essv8899168
SamplesNA18592, NA18960, NA18964, NA18638, NA18537, NA18576, NA18564, NA18609
Known GenesINADL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404887
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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