A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647695



Internal ID6687749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36813529..36813868hg38UCSC Ensembl
Innerchr22:36813532..36813866hg38UCSC Ensembl
Outerchr22:36813527..36813871hg38UCSC Ensembl
chr22:37209573..37209912hg19UCSC Ensembl
Innerchr22:37209576..37209910hg19UCSC Ensembl
Outerchr22:37209571..37209915hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16419053
SamplesNA19717
Known GenesPVALB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647695
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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