A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8639223



Internal ID14795333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171936869..171936869hg38UCSC Ensembl
Innerchr1:171936868..171936870hg38UCSC Ensembl
Outerchr1:171936829..171936889hg38UCSC Ensembl
chr1:171906009..171906009hg19UCSC Ensembl
Innerchr1:171906008..171906010hg19UCSC Ensembl
Outerchr1:171905969..171906029hg19UCSC Ensembl
chr1:170172632..170172632hg18UCSC Ensembl
Innerchr1:170172633..170172631hg18UCSC Ensembl
Outerchr1:170172592..170172652hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332602
Supporting Variants
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8639223
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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