A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3626595



Internal ID12135273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195023001..195023257hg38UCSC Ensembl
chr3:194743730..194743986hg19UCSC Ensembl
chr3:196225019..196225275hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38257
hg19257
hg18257
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1653494
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3626595
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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