A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344948



Internal ID15191932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204375903..204375922hg38UCSC Ensembl
Innerchr1:204375899..204375926hg38UCSC Ensembl
Outerchr1:204375880..204375945hg38UCSC Ensembl
chr1:204345031..204345050hg19UCSC Ensembl
Innerchr1:204345027..204345054hg19UCSC Ensembl
Outerchr1:204345008..204345073hg19UCSC Ensembl
chr1:202611654..202611673hg18UCSC Ensembl
Innerchr1:202611677..202611650hg18UCSC Ensembl
Outerchr1:202611631..202611696hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9597880, essv9597903, essv9597914, essv9597892, essv9597925
SamplesNA11931, NA11894, NA12043, NA11881, NA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344948
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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