A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1051749



Internal ID12214874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14101564..14101564hg38UCSC Ensembl
chr8:13959073..13959073hg19UCSC Ensembl
chr8:14003444..14003444hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4027231
SamplesHuRef
Known GenesSGCZ
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1051749
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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