A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863714



Internal ID13316154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72707373..72707394hg38UCSC Ensembl
Innerchr1:72707375..72707392hg38UCSC Ensembl
Outerchr1:72707371..72707396hg38UCSC Ensembl
chr1:73173056..73173077hg19UCSC Ensembl
Innerchr1:73173058..73173075hg19UCSC Ensembl
Outerchr1:73173054..73173079hg19UCSC Ensembl
chr1:72945644..72945665hg18UCSC Ensembl
Innerchr1:72945646..72945663hg18UCSC Ensembl
Outerchr1:72945642..72945667hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362465
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863714
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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