A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16392101



Internal ID579482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22_KI270879v1_alt:239419..285699hg38UCSC Ensembl
chr22:24345244..24391524hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3846281
hg1946281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647425
Supporting Variants
SamplesHG00254
Known GenesGSTT1, GSTTP1, GSTTP2, LOC391322
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16392101
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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