A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585215



Internal ID6972739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11170301..11172230hg38UCSC Ensembl
Innerchr1:11170301..11172230hg38UCSC Ensembl
Outerchr1:11170024..11172460hg38UCSC Ensembl
chr1:11230358..11232287hg19UCSC Ensembl
Innerchr1:11230358..11232287hg19UCSC Ensembl
Outerchr1:11230081..11232517hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381930
hg191930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9853638, essv9853620, essv9853632, essv9853639, essv9853625, essv9853622, essv9853635, essv9853630, essv9853628, essv9853634, essv9853621, essv9853637, essv9853619, essv9853631, essv9853626, essv9853624, essv9853618, essv9853636, essv9853627, essv9853629, essv9853640, essv9853623, essv9853633
SamplesNA19222, HG02836, HG02804, HG03199, HG03095, HG03436, HG02854, HG03209, HG03460, NA18868, HG02634, HG03583, HG01384, HG03078, HG03109, HG02813, NA19017, HG02613, HG02807, HG02010, HG01912, HG03077, NA19316
Known GenesMTOR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585215
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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