A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7504871



Internal ID10436467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33355629..33355780hg38UCSC Ensembl
chr22:33751615..33751766hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3235304
Supporting Variants
SamplesHuRef
Known GenesLARGE
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7504871
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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