A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4092312



Internal ID11669563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196634882..196634882hg38UCSC Ensembl
chr3:196361753..196361753hg19UCSC Ensembl
chr3:197846150..197846150hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1284197
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4092312
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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