A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4020115



Internal ID11741758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17146454..17147260hg38UCSC Ensembl
chr22:17627344..17628150hg19UCSC Ensembl
chr22:16007344..16008150hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38807
hg19807
hg18807
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1195567
Supporting Variants
SamplesHuRef
Known GenesCECR5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4020115
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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