A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662455



Internal ID9928560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73746856..73748024hg38UCSC Ensembl
Outerchr12:73746699..73748177hg38UCSC Ensembl
Innerchr12:74140636..74141804hg19UCSC Ensembl
Outerchr12:74140479..74141957hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381479
hg191479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6227743, essv6271502, essv6459894, essv6545603
SamplesNA19448, NA19452, NA19434, NA19444
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662455
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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