A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv772e199



Internal ID22758545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241078122..241079152hg38UCSC Ensembl
chr2:242017537..242018567hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661783, esv2659634
SamplesNA19443, NA18910, NA19469, NA19395, NA19331, NA19835, NA19470
Known GenesSNED1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv772e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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