A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647227



Internal ID7033968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17596405..17597848hg38UCSC Ensembl
Innerchr22:17596406..17597848hg38UCSC Ensembl
Outerchr22:17596405..17597849hg38UCSC Ensembl
chr22:18079171..18080614hg19UCSC Ensembl
Innerchr22:18079172..18080614hg19UCSC Ensembl
Outerchr22:18079171..18080615hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381444
hg191444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16360568, essv16360558, essv16360549, essv16360565, essv16360567, essv16360564, essv16360550, essv16360569, essv16360561, essv16360552, essv16360562, essv16360554, essv16360556, essv16360566, essv16360546, essv16360557, essv16360560, essv16360547, essv16360563, essv16360553, essv16360555, essv16360551, essv16360548, essv16360559
SamplesHG03378, HG01624, NA19020, HG02870, HG02323, HG02624, NA19307, HG01766, HG02715, HG02570, HG02449, HG03027, HG02429, HG03446, NA19338, HG02585, HG02594, HG02807, HG02667, HG01190, HG02721, HG03103, HG02095, NA19030
Known GenesATP6V1E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647227
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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