A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv256e199



Internal ID20123558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1293386..1293618hg38UCSC Ensembl
chr12:1402552..1402784hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666197, esv2678152
SamplesHG00323, HG01357, HG00313, HG00252, HG00318, HG00536, NA18530, HG00328, NA19114, HG01173, NA18612, HG00131, NA19401, HG00310, HG00261, NA19223, HG01079, HG01389, NA20296, HG01492, HG01082, NA18953, HG01174, NA20342, HG00326, HG01350, NA18546, HG00683, HG00111, HG00335, HG01101, HG00331, HG00319, NA18557, HG01171, HG00256, HG00543, HG01107, HG00158, HG00346, HG01375, NA19390, HG00583, NA18635, NA18622, NA19197, HG01048, HG00692, HG01183, HG01047, HG00689, NA18636, NA19396, NA19397, NA20127, HG00330, NA12761, HG00338, HG01360, NA18593, HG00254, HG01187, HG00237, HG00343, HG00584, NA19380, NA19395, HG00108, NA18620, NA19374, NA19703, HG00268, HG01066, NA19375, NA06986, NA19657, HG00672, HG00273, HG00282, HG00478, HG00740, HG00246, HG01060, NA18543, NA19376, NA19729, NA19391, HG01334, HG00138, HG00654, HG01390, NA11993, HG00656, NA19371, HG01498, HG00275, NA18549, HG00137, HG00671, HG00345, HG00704, NA19385, HG00136, HG00327
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv256e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss104
Observed Complex0
Frequencyn/a


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