A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303245



Internal ID14803507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44468135..44468136hg38UCSC Ensembl
Innerchr1:44468113..44468158hg38UCSC Ensembl
Outerchr1:44468112..44468159hg38UCSC Ensembl
chr1:44933807..44933808hg19UCSC Ensembl
Innerchr1:44933785..44933830hg19UCSC Ensembl
Outerchr1:44933784..44933831hg19UCSC Ensembl
chr1:44706394..44706395hg18UCSC Ensembl
Innerchr1:44706417..44706372hg18UCSC Ensembl
Outerchr1:44706371..44706418hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763424, essv7767318, essv7767030, essv7764668, essv7767761, essv7769324, essv7768963, essv7769947, essv7766960
SamplesNA11881, NA07347, NA11918, NA11931, NA12287, NA19239, NA12234, NA07346, NA12892
Known GenesRNF220
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303245
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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