A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671712



Internal ID9591131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230794326..230797389hg38UCSC Ensembl
Outerchr2:230794169..230797542hg38UCSC Ensembl
Innerchr2:231659041..231662104hg19UCSC Ensembl
Outerchr2:231658884..231662257hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383374
hg193374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5750249, essv5582695
SamplesHG00139, HG00131
Known GenesCAB39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671712
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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