A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673781



Internal ID15114744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160531102..160531124hg38UCSC Ensembl
Innerchr1:160531099..160531125hg38UCSC Ensembl
Outerchr1:160531079..160531147hg38UCSC Ensembl
chr1:160500892..160500914hg19UCSC Ensembl
Innerchr1:160500889..160500915hg19UCSC Ensembl
Outerchr1:160500869..160500937hg19UCSC Ensembl
chr1:158767516..158767538hg18UCSC Ensembl
Innerchr1:158767539..158767513hg18UCSC Ensembl
Outerchr1:158767493..158767561hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426878
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673781
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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