A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16394399



Internal ID6396215
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647443
Supporting Variants
SamplesHG01525
Known GenesSGSM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16394399
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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