A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658452



Internal ID9924557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55700114..55700579hg38UCSC Ensembl
chr19:56211480..56211945hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6343239, essv6433192, essv5806512, essv5808745, essv5838512, essv5888372, essv6124466, essv5778619, essv5726436, essv5747127, essv6118620, essv5625415, essv6193710, essv6122640, essv5467180, essv6403770, essv6098852, essv6000422, essv5610524, essv5634998, essv5564075, essv5535312, essv6128684, essv6081478, essv6396995, essv6030247, essv5644998, essv5475788, essv6596315, essv5661451, essv5658134, essv6220212, essv5645550, essv5741455, essv5431565, essv6471464, essv6411978, essv5472330, essv5851635, essv6208263, essv6047945, essv6199436, essv6077765, essv6170043, essv6596910, essv5833798, essv6574161, essv6124255, essv6355541, essv6028284, essv5757771, essv6345830, essv6179072, essv6431949, essv5906197, essv5396900
SamplesNA19394, NA19700, NA19397, NA18947, NA11829, NA19204, NA18508, NA19704, NA19355, NA12004, NA19443, NA19190, NA19098, NA18967, NA07346, NA19396, NA18916, NA19138, NA18868, NA19917, NA19238, NA19159, NA18520, NA19239, NA19209, NA19445, NA18908, NA19200, NA18951, NA19462, NA19152, NA19455, NA18516, NA18871, NA19453, NA12892, NA19469, NA19625, NA19375, NA19108, NA19712, NA19240, NA19144, NA19334, NA19470, HG01108, NA19360, NA19398, NA19248, NA19102, HG01377, NA19129, NA19312, NA07000, NA12154, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658452
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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