A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647781



Internal ID7034520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40694997..40699458hg38UCSC Ensembl
Innerchr22:40695009..40699446hg38UCSC Ensembl
Outerchr22:40694985..40699470hg38UCSC Ensembl
chr22:41091001..41095462hg19UCSC Ensembl
Innerchr22:41091013..41095450hg19UCSC Ensembl
Outerchr22:41090989..41095474hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg384462
hg194462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430039, essv16430038
SamplesNA19091, NA19082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647781
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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