A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382805



Internal ID15229776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242629362..242629369hg38UCSC Ensembl
Innerchr1:242629364..242629367hg38UCSC Ensembl
Outerchr1:242629360..242629371hg38UCSC Ensembl
chr1:242792664..242792671hg19UCSC Ensembl
Innerchr1:242792666..242792669hg19UCSC Ensembl
Outerchr1:242792662..242792673hg19UCSC Ensembl
chr1:240859287..240859294hg18UCSC Ensembl
Innerchr1:240859289..240859292hg18UCSC Ensembl
Outerchr1:240859285..240859296hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863846, essv7863847
SamplesNA12005, NA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382805
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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