A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674151



Internal ID14688818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89904970..89905019hg38UCSC Ensembl
Innerchr1:89904989..89905000hg38UCSC Ensembl
Outerchr1:89904940..89905049hg38UCSC Ensembl
chr1:90370529..90370578hg19UCSC Ensembl
Innerchr1:90370548..90370559hg19UCSC Ensembl
Outerchr1:90370499..90370608hg19UCSC Ensembl
chr1:90143117..90143166hg18UCSC Ensembl
Innerchr1:90143147..90143136hg18UCSC Ensembl
Outerchr1:90143087..90143196hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3331862
Supporting Variants
SamplesNA19238
Known GenesLRRC8D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674151
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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