A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3752048



Internal ID12009822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191742253..191742303hg38UCSC Ensembl
chr2:192606979..192607029hg19UCSC Ensembl
chr2:192315224..192315274hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1058233
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3752048
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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