A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4097388



Internal ID11317801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41196502..41196502hg38UCSC Ensembl
chr20:39825142..39825142hg19UCSC Ensembl
chr20:39258556..39258556hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1745872
Supporting Variants
SamplesHuRef
Known GenesZHX3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4097388
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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