A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv762e199



Internal ID22758535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227404142..227405348hg38UCSC Ensembl
chr2:228268858..228270064hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663122, esv2658718
SamplesHG01462, NA18861, NA18507, NA20356, NA19382, NA19197, NA19904, NA19238, NA19445, NA19247, NA19461, NA19834, NA19240, NA19380, NA19835, NA19472, NA19223, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv762e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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