A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv412e199



Internal ID22758185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99037564..99038924hg38UCSC Ensembl
chr14:99503901..99505261hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2669922, esv2677267
SamplesHG01173, NA19909, HG00249, HG01359, HG00261, HG00271, HG00281, HG00156, HG01072, NA19372, NA19002, HG00178, HG00313, HG01136, NA20536, NA19717, NA19455, NA19663, HG00275, HG01334, HG01107, HG00119, NA20790, HG01375, NA19470, HG00256, HG01489, HG00269, NA19438, NA19472, NA19779, HG00329, NA19468, HG00267, NA19430, HG01191, NA20754
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv412e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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