A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388679



Internal ID14888960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89904998..89905021hg38UCSC Ensembl
Innerchr1:89904996..89905023hg38UCSC Ensembl
Outerchr1:89904973..89905046hg38UCSC Ensembl
chr1:90370557..90370580hg19UCSC Ensembl
Innerchr1:90370555..90370582hg19UCSC Ensembl
Outerchr1:90370532..90370605hg19UCSC Ensembl
chr1:90143145..90143168hg18UCSC Ensembl
Innerchr1:90143170..90143143hg18UCSC Ensembl
Outerchr1:90143120..90143193hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8900025, essv8900020, essv8900021, essv8900027, essv8900022, essv8900019, essv8900024, essv8900023
SamplesNA18573, NA11919, NA12004, NA12761, NA12751, NA07346, NA06986, NA11830
Known GenesLRRC8D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388679
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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