A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373767



Internal ID15220742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226903036..226903053hg38UCSC Ensembl
Innerchr1:226903039..226903050hg38UCSC Ensembl
Outerchr1:226903022..226903067hg38UCSC Ensembl
chr1:227090737..227090754hg19UCSC Ensembl
Innerchr1:227090740..227090751hg19UCSC Ensembl
Outerchr1:227090723..227090768hg19UCSC Ensembl
chr1:225157360..225157377hg18UCSC Ensembl
Innerchr1:225157374..225157363hg18UCSC Ensembl
Outerchr1:225157346..225157391hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8903332, essv8903330, essv8903329, essv8903328, essv8903327, essv8903331
SamplesNA18520, NA18871, NA18907, NA19114, NA19099, NA18523
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373767
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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