A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1361730



Internal ID12178166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28781339..28781656hg38UCSC Ensembl
chr22:29177327..29177644hg19UCSC Ensembl
chr22:27507327..27507644hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38318
hg19318
hg18318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3604937
SamplesHuRef
Known GenesCCDC117
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1361730
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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