A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4358749



Internal ID11641287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126260421..126260421hg38UCSC Ensembl
chr3:125979264..125979264hg19UCSC Ensembl
chr3:127461954..127461954hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1218626
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4358749
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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