A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677227



Internal ID9943332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93225187..93231374hg38UCSC Ensembl
chr8:94237416..94243603hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386188
hg196188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6280759, essv5746026, essv6123677, essv5861824, essv5882504, essv6372477, essv6219489, essv5396437
SamplesNA19383, NA19238, NA18867, NA19327, NA18910, NA19435, NA19240, NA18501
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677227
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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