A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv322e199



Internal ID20123624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121844957..121845533hg38UCSC Ensembl
chr12:122282863..122283439hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663513, esv2668773
SamplesNA19312, NA19445, NA18520, NA19904, NA18523, NA18874, HG01342, NA19469, NA19223, NA18516, NA20342, NA19920, NA19834, NA19472, NA18873, NA20340, NA19463, NA19383, NA20356, NA19197, NA19835, NA20336, NA20341, NA19380, NA19374, NA19384, NA18486, NA19102, NA18910, NA19711, NA18907, NA19403, NA19399, NA18924, NA19371, NA19315, HG01125, NA19130, NA18853, NA19350, HG01489, NA19468, NA18519, NA19439
Known GenesHPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv322e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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