A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1683994



Internal ID12847112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38113464..38113599hg38UCSC Ensembl
chr3:38154955..38155090hg19UCSC Ensembl
chr3:38129959..38130094hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3953180
SamplesHuRef
Known GenesDLEC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1683994
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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