A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666198



Internal ID9585617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19434933..19435099hg38UCSC Ensembl
chr1:19761427..19761593hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26e199
Supporting Variantsessv5716182, essv6292449, essv5854594, essv6459572, essv5739856, essv5722052, essv5769405, essv5445742, essv5896709, essv6383007, essv5693153, essv6071372, essv6496154, essv5923137, essv5518731, essv6179878, essv6189649, essv5677631, essv5799083, essv5620023, essv5593770, essv6424168, essv6005925, essv5633311, essv5939145, essv5645030, essv5881507, essv6362429, essv6510308, essv6501660, essv5446610, essv6263426, essv5895348, essv5963732, essv5744394, essv5934753, essv6568134, essv5814559, essv5813842, essv5765307, essv5808699, essv5980334, essv6018980, essv5781945
SamplesNA19394, HG00650, NA11830, NA18621, NA18561, NA18486, NA20507, NA18633, NA19381, NA18597, NA18595, HG00448, NA18558, HG00512, HG01067, HG00419, HG00108, HG00154, NA18956, HG00584, HG00275, NA18948, NA18534, NA18548, HG00324, HG00273, NA11894, HG00613, HG00246, NA18632, HG00336, NA18559, HG00278, HG01174, HG00473, NA20504, HG00339, HG00478, HG00259, NA12830, HG00280, HG01377, HG00345, NA18965
Known GenesCAPZB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666198
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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