A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352384



Internal ID15199365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7567805..7570103hg38UCSC Ensembl
Innerchr1:7568805..7569103hg38UCSC Ensembl
Outerchr1:7566805..7571103hg38UCSC Ensembl
chr1:7627865..7630163hg19UCSC Ensembl
Innerchr1:7628865..7629163hg19UCSC Ensembl
Outerchr1:7626865..7631163hg19UCSC Ensembl
chr1:7550452..7552750hg18UCSC Ensembl
Innerchr1:7551452..7551750hg18UCSC Ensembl
Outerchr1:7549452..7553750hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e59
Supporting Variantsessv8692411
SamplesNA19240
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352384
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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