A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863780



Internal ID12969538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179615777..179615792hg38UCSC Ensembl
Innerchr1:179615782..179615787hg38UCSC Ensembl
Outerchr1:179615772..179615797hg38UCSC Ensembl
chr1:179584912..179584927hg19UCSC Ensembl
Innerchr1:179584917..179584922hg19UCSC Ensembl
Outerchr1:179584907..179584932hg19UCSC Ensembl
chr1:177851535..177851550hg18UCSC Ensembl
Innerchr1:177851540..177851545hg18UCSC Ensembl
Outerchr1:177851530..177851555hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414091
Supporting Variants
SamplesNA12005
Known GenesTDRD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863780
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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