A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647442



Internal ID7034183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24799237..24801494hg38UCSC Ensembl
Innerchr22:24799237..24801494hg38UCSC Ensembl
Outerchr22:24799014..24801692hg38UCSC Ensembl
chr22:25195204..25197461hg19UCSC Ensembl
Innerchr22:25195204..25197461hg19UCSC Ensembl
Outerchr22:25194981..25197659hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg382258
hg192258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16394377, essv16394381, essv16394385, essv16394392, essv16394398, essv16394380, essv16394363, essv16394374, essv16394383, essv16394373, essv16394365, essv16394395, essv16394390, essv16394370, essv16394384, essv16394388, essv16394368, essv16394378, essv16394393, essv16394369, essv16394387, essv16394367, essv16394372, essv16394386, essv16394391, essv16394364, essv16394366, essv16394376, essv16394379, essv16394394, essv16394382, essv16394389, essv16394397, essv16394396, essv16394375, essv16394371
SamplesHG03366, NA18508, HG03163, NA19332, HG03190, HG03295, HG03518, HG03172, NA19314, HG03572, HG03436, NA19201, HG03370, NA19131, HG03520, NA18874, HG03352, HG03058, HG03270, HG02819, NA19210, HG03511, HG01989, HG03301, HG02577, HG02722, NA19375, NA18517, HG02223, NA19072, HG01958, NA19117, HG02970, NA18873, NA19312, HG03118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647442
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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