A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4161263



Internal ID11097116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19373937..19373937hg38UCSC Ensembl
chr22:19361460..19361460hg19UCSC Ensembl
chr22:17741460..17741460hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38126
hg19126
hg18126
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1126765
Supporting Variants
SamplesHuRef
Known GenesHIRA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4161263
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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