A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4107064



Internal ID11308125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240459..1240459hg38UCSC Ensembl
chr4:1234247..1234247hg19UCSC Ensembl
chr4:1224247..1224247hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1720969
Supporting Variants
SamplesHuRef
Known GenesCTBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4107064
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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