A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674162



Internal ID9940267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:88515646..88519098hg38UCSC Ensembl
Outerchr9:88515609..88519148hg38UCSC Ensembl
Innerchr9:91130561..91134013hg19UCSC Ensembl
Outerchr9:91130524..91134063hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg383540
hg193540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1358e199
Supporting Variantsessv5620978, essv6534401
SamplesNA19678, NA20334
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674162
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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