A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670806



Internal ID9590225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17877139..17877412hg38UCSC Ensembl
Outerchr22:17877102..17877462hg38UCSC Ensembl
Innerchr22:18359905..18360178hg19UCSC Ensembl
Outerchr22:18359868..18360228hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv816e199
Supporting Variantsessv6148925, essv6461793, essv5842300, essv6430905, essv6291957, essv6247899
SamplesNA18486, NA19319, NA19331, NA20281, NA20348, NA19102
Known GenesMICAL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670806
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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