A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1344671



Internal ID5474775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227193998..227194053hg38UCSC Ensembl
chr2:228058714..228058769hg19UCSC Ensembl
chr2:227766958..227767013hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3632827
SamplesHuRef
Known GenesCOL4A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1344671
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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