A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4139770



Internal ID11422308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110474682..110474682hg38UCSC Ensembl
chr13:111127029..111127029hg19UCSC Ensembl
chr13:109925030..109925030hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1140517
Supporting Variants
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4139770
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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