A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16397730



Internal ID3640669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28851968..28857653hg38UCSC Ensembl
Innerchr22:28851975..28857647hg38UCSC Ensembl
Outerchr22:28851962..28857660hg38UCSC Ensembl
chr22:29247956..29253641hg19UCSC Ensembl
Innerchr22:29247963..29253635hg19UCSC Ensembl
Outerchr22:29247950..29253648hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg385686
hg195686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647521
Supporting Variants
SamplesHG03237
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16397730
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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