A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367601



Internal ID15214577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51477392..51478490hg38UCSC Ensembl
Innerchr1:51477490..51478392hg38UCSC Ensembl
Outerchr1:51476392..51479490hg38UCSC Ensembl
chr1:51943064..51944162hg19UCSC Ensembl
Innerchr1:51943162..51944064hg19UCSC Ensembl
Outerchr1:51942064..51945162hg19UCSC Ensembl
chr1:51715652..51716750hg18UCSC Ensembl
Innerchr1:51716652..51715750hg18UCSC Ensembl
Outerchr1:51714652..51717750hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692355
SamplesNA19238
Known GenesEPS15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367601
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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