A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1191118



Internal ID12007555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127694316..127694388hg38UCSC Ensembl
chr3:127413159..127413231hg19UCSC Ensembl
chr3:128895849..128895921hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4045311
SamplesHuRef
Known GenesMGLL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1191118
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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