A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv641e199



Internal ID20123943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38727205..38731552hg38UCSC Ensembl
chr19:39217845..39222192hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661052, esv2677879
SamplesHG00626, HG00403, HG00114, HG00650, HG00542, HG00442, HG00536, HG00608, HG00249, HG00671, HG00524, HG00257, HG00244, HG00449, HG00150, HG00654, HG00261, HG00693, HG00663, HG00251, HG00501, HG00122, HG00702, HG00689, HG00448, HG00634, HG00610, HG00247, HG00537, HG00243, HG00590, HG00158, HG00512, HG00683, HG00106, HG00156, HG00232, HG00534, HG00422, HG00427, HG00530, HG00419, HG00253, HG00264, HG00464, HG00260, HG00543, HG00137, HG00154, HG00149, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00577, HG00701, HG00657, HG00475, HG00556, HG00583, HG00500, HG00263, HG00619, HG00239, HG00708, HG00692, HG00635, HG00651, HG00250, HG00690, HG00404, HG00531, HG00479, HG00613, HG00525, HG00140, HG00704, HG00463, HG00141, HG00246, HG00258, HG00611, HG00476, HG00254, HG00625, HG00136, HG00473, HG00607, HG00237, HG00256, HG00662, HG00418, HG00620, HG00672, HG00111, HG00513, HG00578, HG00478, HG00259, HG00421, HG00112, HG00698, HG00131, HG00252, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesACTN4, CAPN12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv641e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss111
Observed Complex0
Frequencyn/a


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