A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674463



Internal ID9940568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45031781..45032158hg38UCSC Ensembl
chr22:45427662..45428039hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6145168, essv6454409, essv6258026, essv6211155, essv5961775, essv6457692, essv6452482
SamplesNA18508, HG01051, NA19457, NA18520, NA11993, NA19403, NA19395
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674463
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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