A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308933



Internal ID15155882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7845911..7845912hg38UCSC Ensembl
Innerchr5:7845874..7845949hg38UCSC Ensembl
Outerchr5:7845873..7845950hg38UCSC Ensembl
chr5:7846024..7846025hg19UCSC Ensembl
Innerchr5:7845987..7846062hg19UCSC Ensembl
Outerchr5:7845986..7846063hg19UCSC Ensembl
chr5:7899024..7899025hg18UCSC Ensembl
Innerchr5:7899062..7898987hg18UCSC Ensembl
Outerchr5:7898986..7899063hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38119
hg19119
hg18119
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838014, essv7838836, essv7837819, essv7837023, essv7837361
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known GenesC5orf49
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308933
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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