A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669322



Internal ID9935427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245009760..245014540hg38UCSC Ensembl
Outerchr1:245009723..245014590hg38UCSC Ensembl
Innerchr1:245173062..245177842hg19UCSC Ensembl
Outerchr1:245173025..245177892hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384868
hg194868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6178249
SamplesNA19075
Known GenesEFCAB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669322
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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