A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330385



Internal ID15177374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229787682..229788480hg38UCSC Ensembl
Innerchr1:229787681..229788481hg38UCSC Ensembl
Outerchr1:229786682..229789480hg38UCSC Ensembl
chr1:229923429..229924227hg19UCSC Ensembl
Innerchr1:229923428..229924228hg19UCSC Ensembl
Outerchr1:229922429..229925227hg19UCSC Ensembl
chr1:227990052..227990850hg18UCSC Ensembl
Innerchr1:227990851..227990051hg18UCSC Ensembl
Outerchr1:227989052..227991850hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692160
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330385
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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