A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5403615



Internal ID8381018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2136886..2140492hg38UCSC Ensembl
Outerchr11:2136515..2140862hg38UCSC Ensembl
Innerchr11:2158116..2161722hg19UCSC Ensembl
Outerchr11:2157745..2162092hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673506
Supporting Variants
SamplesNA19834
Known GenesIGF2, IGF2-AS, INS-IGF2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5403615
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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