A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692402



Internal ID15032261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7103305..7104603hg38UCSC Ensembl
Innerchr1:7103603..7104305hg38UCSC Ensembl
Outerchr1:7102305..7105603hg38UCSC Ensembl
chr1:7163365..7164663hg19UCSC Ensembl
Innerchr1:7163663..7164365hg19UCSC Ensembl
Outerchr1:7162365..7165663hg19UCSC Ensembl
chr1:7085952..7087250hg18UCSC Ensembl
Innerchr1:7086952..7086250hg18UCSC Ensembl
Outerchr1:7084952..7088250hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449661
Supporting Variants
SamplesNA19238
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692402
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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