A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673804



Internal ID9939909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235440081..235446253hg38UCSC Ensembl
Outerchr1:235440044..235446303hg38UCSC Ensembl
Innerchr1:235603396..235609568hg19UCSC Ensembl
Outerchr1:235603359..235609618hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg386260
hg196260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5973900
SamplesNA18612
Known GenesTBCE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673804
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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