A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1126785



Internal ID11943222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125343477..125343544hg38UCSC Ensembl
chr3:125062321..125062388hg19UCSC Ensembl
chr3:126545011..126545078hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3598554
SamplesHuRef
Known GenesZNF148
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1126785
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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