A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647483



Internal ID6687538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26713488..26715352hg38UCSC Ensembl
Innerchr22:26713488..26715352hg38UCSC Ensembl
Outerchr22:26713188..26715456hg38UCSC Ensembl
chr22:27109451..27111315hg19UCSC Ensembl
Innerchr22:27109451..27111315hg19UCSC Ensembl
Outerchr22:27109151..27111419hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381865
hg191865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16396637, essv16396643, essv16396644, essv16396640, essv16396645, essv16396641, essv16396646, essv16396638, essv16396639, essv16396642
SamplesHG00189, HG00269, HG00556, HG00180, HG00332, NA19082, NA19055, HG00329, HG00278, NA18980
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647483
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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