A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647554



Internal ID6687608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30047496..30051870hg38UCSC Ensembl
Innerchr22:30047499..30051867hg38UCSC Ensembl
Outerchr22:30047493..30051873hg38UCSC Ensembl
chr22:30443485..30447859hg19UCSC Ensembl
Innerchr22:30443488..30447856hg19UCSC Ensembl
Outerchr22:30443482..30447862hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg384375
hg194375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16402279, essv16402280, essv16402282, essv16402283, essv16402284, essv16402281, essv16402285, essv16402277, essv16402278
SamplesHG02419, HG03301, NA19257, HG03114, NA19189, HG02536, NA19201, NA19399, NA18499
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647554
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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