A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404107



Internal ID14904383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44468141..44468160hg38UCSC Ensembl
Innerchr1:44468137..44468164hg38UCSC Ensembl
Outerchr1:44468118..44468183hg38UCSC Ensembl
chr1:44933813..44933832hg19UCSC Ensembl
Innerchr1:44933809..44933836hg19UCSC Ensembl
Outerchr1:44933790..44933855hg19UCSC Ensembl
chr1:44706400..44706419hg18UCSC Ensembl
Innerchr1:44706423..44706396hg18UCSC Ensembl
Outerchr1:44706377..44706442hg18UCSC Ensembl
Cytoband1p34.1
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 Variantsessv9594135, essv9594101, essv9594124, essv9594146, essv9594090, essv9594113
SamplesNA07347, NA11918, NA11931, NA12287, NA12234, NA07346
Known GenesRNF220
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404107
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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