A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669786



Internal ID9589205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43759836..43763482hg38UCSC Ensembl
Outerchr12:43759679..43763635hg38UCSC Ensembl
Innerchr12:44153639..44157285hg19UCSC Ensembl
Outerchr12:44153482..44157438hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383957
hg193957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv285e199
Supporting Variantsessv6131244
SamplesNA18597
Known GenesIRAK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669786
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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