A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659486



Internal ID9925591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209497340..209511226hg38UCSC Ensembl
Outerchr1:209497303..209511276hg38UCSC Ensembl
Innerchr1:209670685..209684571hg19UCSC Ensembl
Outerchr1:209670648..209684621hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3813974
hg1913974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6544183
SamplesNA20804
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659486
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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