A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670906



Internal ID15025952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67777911..67778213hg38UCSC Ensembl
Innerchr1:67778028..67778093hg38UCSC Ensembl
Outerchr1:67777791..67778330hg38UCSC Ensembl
chr1:68243594..68243896hg19UCSC Ensembl
Innerchr1:68243711..68243776hg19UCSC Ensembl
Outerchr1:68243474..68244013hg19UCSC Ensembl
chr1:68016182..68016484hg18UCSC Ensembl
Innerchr1:68016299..68016364hg18UCSC Ensembl
Outerchr1:68016062..68016601hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350914
Supporting Variants
SamplesNA19238
Known GenesGNG12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670906
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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