A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3725183



Internal ID11690001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29239907..29239959hg38UCSC Ensembl
chr22:29635896..29635948hg19UCSC Ensembl
chr22:27965896..27965948hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1772608
Supporting Variants
SamplesHuRef
Known GenesEMID1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3725183
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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