A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305832



Internal ID15152780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83714214..83714215hg38UCSC Ensembl
Innerchr11:83714197..83714232hg38UCSC Ensembl
Outerchr11:83714196..83714233hg38UCSC Ensembl
chr11:83425257..83425258hg19UCSC Ensembl
Innerchr11:83425240..83425275hg19UCSC Ensembl
Outerchr11:83425239..83425276hg19UCSC Ensembl
chr11:83102905..83102906hg18UCSC Ensembl
Innerchr11:83102923..83102888hg18UCSC Ensembl
Outerchr11:83102887..83102924hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7822911, essv7775698, essv7788268, essv7791145, essv7833649, essv7814415, essv7796476, essv7796419, essv7787338, essv7803409, essv7828623, essv7781816
SamplesNA12814, NA18561, NA18550, NA18547, NA18949, NA18638, NA18948, NA11840, NA18555, NA18608, NA18564, NA18965
Known GenesDLG2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305832
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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