A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1211999



Internal ID12375122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110313558..110313864hg38UCSC Ensembl
chr13:110965905..110966211hg19UCSC Ensembl
chr13:109763906..109764212hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38307
hg19307
hg18307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4057871
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1211999
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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