A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1593397



Internal ID12756518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50082206..50082268hg38UCSC Ensembl
chr22:50520635..50520697hg19UCSC Ensembl
chr22:48862762..48862824hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3707375
SamplesHuRef
Known GenesMLC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1593397
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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