A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6131244



Internal ID9108647
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 Flag1
Merged StatusS
Merged Variantsesv2669786
Supporting Variants
SamplesNA18597
Known GenesIRAK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6131244
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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