A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688248



Internal ID14694969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2131346..2132244hg38UCSC Ensembl
Innerchr11:2131345..2132245hg38UCSC Ensembl
Outerchr11:2130346..2133244hg38UCSC Ensembl
chr11:2152576..2153474hg19UCSC Ensembl
Innerchr11:2152575..2153475hg19UCSC Ensembl
Outerchr11:2151576..2154474hg19UCSC Ensembl
chr11:2109152..2110050hg18UCSC Ensembl
Innerchr11:2110051..2109151hg18UCSC Ensembl
Outerchr11:2108152..2111050hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434640
Supporting Variants
SamplesNA19239
Known GenesIGF2, INS-IGF2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688248
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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