A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv254e199



Internal ID20123556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:757309..767244hg38UCSC Ensembl
chr12:866475..876410hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389936
hg199936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668809, esv2671399
SamplesNA20588, HG00189, NA20761, NA12717, HG00143, NA19055, NA12286, NA11995, HG00242, NA10851, HG00559, NA19914, NA19704, NA12843, NA20813, NA20752, HG00233, NA20512, NA12045, HG00318, HG00103, HG01456, HG00737, NA20808, NA18616, HG00150, NA20517, HG01461, NA12400, NA12750, NA12155, HG01140, HG00663, NA20537, NA18563, NA20589, NA20586, HG00173, NA20756, NA11992, NA20540, NA19054, HG00369, NA20513, HG00185, HG00243, NA20291, HG00158, NA18611, HG00281, HG01069, HG01080, HG01170, NA11932, HG00422, NA12889, HG00309, HG00182, HG00326, NA20757, NA20533, NA19985, NA20753, HG00260, HG01353, HG00133, HG00188, HG00154, NA18605, NA18613, HG00443, HG00328, HG00653, HG00475, HG00368, NA19663, HG00583, NA12718, NA20519, HG00740, NA20525, HG01094, HG00273, NA19449, HG00404, HG00373, HG01197, NA11894, HG01182, NA06989, HG00157, HG01334, HG00144, HG00146, NA18963, HG00704, HG00463, NA12778, NA18945, HG01075, HG00258, NA20799, NA19729, HG00611, NA18632, HG00124, HG00155, NA12716, HG00254, HG00119, HG00336, NA18559, HG00353, NA19473, HG00375, HG00357, NA20804, HG00278, NA19773, NA19835, NA19679, HG00319, NA20516, HG00256, HG00418, NA18615, HG00339, HG00125, HG00342, NA20786, NA20807, HG00131, NA19080, HG00343, HG00274, HG00252, NA20503, NA20502, NA11892, HG00345, HG00554, HG01191, HG00180, NA20754
Known GenesWNK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv254e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss144
Observed Complex0
Frequencyn/a


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