A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678175



Internal ID9597594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20691629..21284480hg38UCSC Ensembl
chr22:21045917..21638769hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38592852
hg19592853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5714645
SamplesHG00690
Known GenesAIFM3, BCRP2, CRKL, FAM230B, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, POM121L4P, POM121L8P, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678175
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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