A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364640



Internal ID14864901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216996342..216996342hg38UCSC Ensembl
Innerchr1:216996341..216996343hg38UCSC Ensembl
Outerchr1:216996292..216996392hg38UCSC Ensembl
chr1:217169684..217169684hg19UCSC Ensembl
Innerchr1:217169683..217169685hg19UCSC Ensembl
Outerchr1:217169634..217169734hg19UCSC Ensembl
chr1:215236307..215236307hg18UCSC Ensembl
Innerchr1:215236308..215236306hg18UCSC Ensembl
Outerchr1:215236257..215236357hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381145
hg191145
hg181145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653209, essv8653207, essv8653206
SamplesNA12892, NA12891, NA12878
Known GenesESRRG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364640
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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