A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661665



Internal ID9927770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69530707..69537019hg38UCSC Ensembl
chr1:69996390..70002702hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386313
hg196313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5596699, essv5925028, essv6061947, essv6182292, essv5814991, essv5663338, essv6119274, essv6030956
SamplesNA19377, NA19373, NA19904, NA19921, NA19451, NA18910, NA19360, NA19248
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661665
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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