A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3823128



Internal ID11592057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62599776..62599776hg38UCSC Ensembl
chr3:62585451..62585451hg19UCSC Ensembl
chr3:62560491..62560491hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1691841
Supporting Variants
SamplesHuRef
Known GenesCADPS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3823128
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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