A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv549e199



Internal ID22758322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37416460..37422992hg38UCSC Ensembl
chr17:35776545..35783092hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386533
hg196548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662524, esv2670293
SamplesHG00581, NA18577, NA18620, HG00626, HG00403, NA20761, HG00650, NA20543, HG00608, NA20508, NA18592, NA20531, NA20802, HG00699, NA18596, NA20808, NA20507, HG00654, HG00693, HG00663, HG00589, NA18597, NA20589, NA18595, HG00689, NA18619, HG00610, NA18574, HG00537, HG00590, NA20541, NA18611, NA20759, NA18617, NA20811, NA20533, HG00530, NA20515, HG00464, NA20818, NA18614, HG00543, NA18613, NA18538, HG00596, NA20809, NA20810, NA20536, HG00475, HG00556, HG00584, HG00583, NA18637, HG00500, NA20506, NA18579, NA18572, NA18534, HG00619, HG00708, NA20525, HG00651, NA18626, HG00690, HG00404, HG00479, HG00525, NA18570, NA18634, NA18593, NA18632, NA20522, NA18542, NA20801, NA18535, NA18564, HG00580, NA20530, NA20544, NA20516, NA20797, HG00614, NA20582, HG00656, NA20510, NA18636, NA20786, NA20758, NA20528, NA20503, HG00628
Known GenesTADA2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv549e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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