A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647676



Internal ID7034416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36080820..36085231hg38UCSC Ensembl
Innerchr22:36080820..36085231hg38UCSC Ensembl
Outerchr22:36080527..36085595hg38UCSC Ensembl
chr22:36476868..36481279hg19UCSC Ensembl
Innerchr22:36476868..36481279hg19UCSC Ensembl
Outerchr22:36476575..36481643hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384412
hg194412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16413541, essv16413527, essv16413534, essv16413540, essv16413535, essv16413532, essv16413536, essv16413528, essv16413539, essv16413526, essv16413538, essv16413523, essv16413524, essv16413537, essv16413530, essv16413531, essv16413525, essv16413529, essv16413522, essv16413533
SamplesNA18508, HG03163, HG03193, HG03069, NA20340, HG02885, HG02442, HG02582, NA18915, NA18871, HG01889, HG01921, HG02282, HG03539, HG03259, HG03433, NA19679, NA19248, NA19102, HG02947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647676
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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