A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692380



Internal ID13676599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5665605..5676303hg38UCSC Ensembl
Innerchr1:5666605..5675303hg38UCSC Ensembl
Outerchr1:5664605..5677303hg38UCSC Ensembl
chr1:5725665..5736363hg19UCSC Ensembl
Innerchr1:5726665..5735363hg19UCSC Ensembl
Outerchr1:5724665..5737363hg19UCSC Ensembl
chr1:5648252..5658950hg18UCSC Ensembl
Innerchr1:5649252..5657950hg18UCSC Ensembl
Outerchr1:5647252..5659950hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3810699
hg1910699
hg1810699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3335249
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692380
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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