A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672519



Internal ID9938624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:171842473..171846252hg38UCSC Ensembl
Outerchr3:171842436..171846302hg38UCSC Ensembl
Innerchr3:171560263..171564042hg19UCSC Ensembl
Outerchr3:171560226..171564092hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg383867
hg193867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6289388
SamplesNA19651
Known GenesTMEM212
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672519
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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