A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647938



Internal ID7034677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45907172..45915566hg38UCSC Ensembl
Innerchr22:45907193..45915546hg38UCSC Ensembl
Outerchr22:45907152..45915587hg38UCSC Ensembl
chr22:46303052..46311446hg19UCSC Ensembl
Innerchr22:46303073..46311426hg19UCSC Ensembl
Outerchr22:46303032..46311467hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg388395
hg198395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16444865, essv16444864, essv16444866, essv16444867, essv16444863
SamplesHG00306, NA19098, NA19437, NA18915, NA19436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647938
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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