A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658849



Internal ID9578268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71755911..71759157hg38UCSC Ensembl
Outerchr12:71755874..71759207hg38UCSC Ensembl
Innerchr12:72149691..72152937hg19UCSC Ensembl
Outerchr12:72149654..72152987hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg383334
hg193334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5587014
SamplesHG01170
Known GenesRAB21
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658849
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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