A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993229



Internal ID7078562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134209133..134212562hg38UCSC Ensembl
chr2:134966704..134970133hg19UCSC Ensembl
chr2:134683174..134686603hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg383430
hg193430
hg183430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569318
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993229
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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