A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3648991



Internal ID11766191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47431271..47431271hg38UCSC Ensembl
chr3:47472761..47472761hg19UCSC Ensembl
chr3:47447765..47447765hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382668
hg192668
hg182668
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1471808
Supporting Variants
SamplesHuRef
Known GenesSCAP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3648991
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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