A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647443



Internal ID6687498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24831410..24833533hg38UCSC Ensembl
Innerchr22:24831560..24833383hg38UCSC Ensembl
Outerchr22:24831260..24833683hg38UCSC Ensembl
chr22:25227377..25229500hg19UCSC Ensembl
Innerchr22:25227527..25229350hg19UCSC Ensembl
Outerchr22:25227227..25229650hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg382124
hg192124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16394399
SamplesHG01525
Known GenesSGSM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647443
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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