A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1070809



Internal ID11887248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47426997..47427076hg38UCSC Ensembl
chr2:47654136..47654215hg19UCSC Ensembl
chr2:47507640..47507719hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4097515
SamplesHuRef
Known GenesMSH2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1070809
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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