A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647497



Internal ID6687552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27769542..27771235hg38UCSC Ensembl
Innerchr22:27769576..27771202hg38UCSC Ensembl
Outerchr22:27769509..27771269hg38UCSC Ensembl
chr22:28165530..28167223hg19UCSC Ensembl
Innerchr22:28165564..28167190hg19UCSC Ensembl
Outerchr22:28165497..28167257hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381694
hg191694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16397003, essv16397004
SamplesHG03488, HG02493
Known GenesMN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647497
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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