A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660375



Internal ID9926480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40620123..40627420hg38UCSC Ensembl
Outerchr4:40620086..40627470hg38UCSC Ensembl
Innerchr4:40622140..40629437hg19UCSC Ensembl
Outerchr4:40622103..40629487hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg387385
hg197385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv936e199
Supporting Variantsessv6206300
SamplesNA18635
Known GenesRBM47
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660375
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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