A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370220



Internal ID15217196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7498005..7500703hg38UCSC Ensembl
Innerchr1:7499005..7499703hg38UCSC Ensembl
Outerchr1:7497005..7501703hg38UCSC Ensembl
chr1:7558065..7560763hg19UCSC Ensembl
Innerchr1:7559065..7559763hg19UCSC Ensembl
Outerchr1:7557065..7561763hg19UCSC Ensembl
chr1:7480652..7483350hg18UCSC Ensembl
Innerchr1:7481652..7482350hg18UCSC Ensembl
Outerchr1:7479652..7484350hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv34e59
Supporting Variantsessv8692406
SamplesNA19240
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370220
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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