A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678756



Internal ID9598175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121164627..121167434hg38UCSC Ensembl
Outerchr12:121164470..121167587hg38UCSC Ensembl
Innerchr12:121602430..121605237hg19UCSC Ensembl
Outerchr12:121602273..121605390hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383118
hg193118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv319e199
Supporting Variantsessv6445573
SamplesHG01350
Known GenesP2RX7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678756
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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