A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv308e199



Internal ID18982362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101882170..101883376hg38UCSC Ensembl
chr12:102275948..102277154hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674791, esv2669021
SamplesHG00613, NA19012, NA18964, HG00537, HG00607, NA18595, HG00619, NA18561, NA18952, HG00705, HG00500, HG00464, NA19060, NA18570, NA19072, NA18545, HG00614, HG00577, HG00542, NA18546, HG00683, NA18963, HG00557, HG00699, NA18596, NA19077, NA19062, NA19054, NA19059, HG00593, NA18622, NA18623, HG00689, HG00533, HG00419, HG00254, HG00584, NA20769, HG00629, HG00501, HG00478, NA18961, NA18613, HG00524, HG00534, NA18606, NA18543, HG00590, HG00595, NA18983, HG00443, NA18599, NA18538, HG00663, NA18544, HG00448, HG00608, NA18548, NA11830, NA19064, HG00656, HG00422, HG00708, NA18610, NA18984, HG00275, NA18549, NA18574, HG00684, HG00671, NA19065, NA19058
Known GenesDRAM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv308e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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