A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668942



Internal ID9935047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30141106..30143930hg38UCSC Ensembl
chr19:30632013..30634837hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382825
hg192825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6582802, essv6334778, essv5495833, essv5562481, essv6280707, essv6485573, essv5811757, essv6496496, essv6537855, essv6192862, essv6297807, essv6041722, essv5668637, essv6495316, essv6579983, essv5884176, essv5468592, essv5565569, essv5917354, essv5963938, essv6163722, essv6040337, essv5856078, essv5832203, essv5582101, essv5962453, essv5700863, essv6273743, essv5767662, essv5535316, essv6325927, essv5852090, essv6162650, essv5914476, essv6590288, essv6512426, essv5587991, essv6334611, essv5746127, essv5939308, essv5842020, essv6514374, essv5544706, essv6582764, essv6059206, essv6198065, essv5923275, essv5919820, essv5527757, essv5407138, essv5688123
SamplesNA19700, NA19397, NA11829, NA19204, NA18508, NA19332, NA19350, NA12004, NA19098, NA20356, NA12813, NA18967, NA19396, NA19171, NA19201, NA19119, NA19916, NA19131, NA19138, NA19383, NA12156, NA19372, NA19207, NA19159, NA19239, NA19209, NA18975, NA18908, NA19200, NA18951, HG00731, NA19403, NA19152, NA19391, NA18912, NA19225, NA18570, NA19375, NA19473, NA19144, NA19835, NA19376, NA06994, NA18971, NA19223, NA20289, NA19102, NA19463, NA18487, HG00553, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668942
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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