A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667574



Internal ID9933679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40898219..40898552hg38UCSC Ensembl
chr22:41294223..41294556hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6000167, essv5634346, essv6076223, essv5759046, essv6026000, essv5503444, essv5881943, essv5458105, essv5615009, essv6306281, essv5693976, essv6552560, essv6554090, essv5608444, essv6348701, essv5794025, essv5693287, essv5998288, essv5917630, essv5604009, essv6208330, essv6462568, essv5781389, essv6155261, essv5642937, essv5450629, essv6095451, essv5946938, essv5651446, essv5437224, essv6027971, essv6208629, essv6010223, essv6243940, essv5854755, essv5664969, essv6272076, essv6250385, essv6522446, essv6504332, essv6347940, essv6046156, essv5910229, essv5405860, essv5595565, essv5521830, essv6148772, essv6058389, essv6304138, essv6156743, essv6047696, essv5696447, essv5611157
SamplesNA19394, NA19700, NA19703, NA18924, NA18508, NA19399, NA19332, NA19704, NA18917, NA19920, NA19396, NA19381, NA19379, NA18519, NA19382, NA19916, NA19197, NA19138, NA19904, NA19384, NA19404, NA19383, NA18868, NA19917, NA19372, NA19317, NA19901, NA19189, NA18520, HG00149, NA19437, NA19403, NA19391, NA18853, NA19099, NA19469, NA19625, NA19436, NA19401, NA19390, NA19834, NA19435, HG00638, NA19428, NA19311, NA18501, NA18873, NA19116, NA19213, NA19463, NA18522, NA19346, HG00553
Known GenesXPNPEP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667574
Frequency
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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