A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674572



Internal ID9940677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:104344565..104348112hg38UCSC Ensembl
chr10:106104323..106107870hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5992048, essv5722800, essv6136196, essv6132659
SamplesNA19138, NA19462, NA19835, NA19474
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674572
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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