A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16394950



Internal ID6396766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25323914..25521686hg38UCSC Ensembl
chr22:25719881..25917653hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38197773
hg19197773
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647461
Supporting Variants
SamplesNA18595
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16394950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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