A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435759



Internal ID15282713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41424093..41425591hg38UCSC Ensembl
Innerchr1:41424591..41425093hg38UCSC Ensembl
Outerchr1:41423093..41426592hg38UCSC Ensembl
chr1:41889765..41891263hg19UCSC Ensembl
Innerchr1:41890263..41890765hg19UCSC Ensembl
Outerchr1:41888765..41892263hg19UCSC Ensembl
chr1:41662352..41663850hg18UCSC Ensembl
Innerchr1:41663352..41662850hg18UCSC Ensembl
Outerchr1:41661352..41664850hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv81e59
Supporting Variantsessv8692329
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435759
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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