A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005641



Internal ID7070736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112962825..112970592hg38UCSC Ensembl
Outerchr2:113720402..113728169hg19UCSC Ensembl
Outerchr2:113436873..113444640hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg387768
hg197768
hg187768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564316
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005641
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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