A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304080



Internal ID15151028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36318488..36318489hg38UCSC Ensembl
Innerchr11:36318471..36318506hg38UCSC Ensembl
Outerchr11:36318470..36318507hg38UCSC Ensembl
chr11:36340038..36340039hg19UCSC Ensembl
Innerchr11:36340021..36340056hg19UCSC Ensembl
Outerchr11:36340020..36340057hg19UCSC Ensembl
chr11:36296614..36296615hg18UCSC Ensembl
Innerchr11:36296632..36296597hg18UCSC Ensembl
Outerchr11:36296596..36296633hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7822372, essv7814406, essv7794860, essv7774010, essv7779160, essv7770899, essv7772858, essv7780226, essv7780786, essv7807733, essv7796068
SamplesNA18592, NA11931, NA18550, NA12891, NA18571, NA18638, NA18572, NA18542, NA12716, NA18952, NA12749
Known GenesPRR5L
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304080
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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