A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426585



Internal ID15273542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227916228..227917126hg38UCSC Ensembl
Innerchr1:227916227..227917127hg38UCSC Ensembl
Outerchr1:227915228..227918126hg38UCSC Ensembl
chr1:228103929..228104827hg19UCSC Ensembl
Innerchr1:228103928..228104828hg19UCSC Ensembl
Outerchr1:228102929..228105827hg19UCSC Ensembl
chr1:226170552..226171450hg18UCSC Ensembl
Innerchr1:226171451..226170551hg18UCSC Ensembl
Outerchr1:226169552..226172450hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692138
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426585
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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