A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7768365



Internal ID13616663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209365405..209365406hg38UCSC Ensembl
Innerchr1:209365383..209365428hg38UCSC Ensembl
Outerchr1:209365382..209365429hg38UCSC Ensembl
chr1:209538750..209538751hg19UCSC Ensembl
Innerchr1:209538728..209538773hg19UCSC Ensembl
Outerchr1:209538727..209538774hg19UCSC Ensembl
chr1:207605373..207605374hg18UCSC Ensembl
Innerchr1:207605396..207605351hg18UCSC Ensembl
Outerchr1:207605350..207605397hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306533
Supporting Variants
SamplesNA12872
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7768365
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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