A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625502



Internal ID6665649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18477137..18479871hg38UCSC Ensembl
Innerchr11:18477151..18479857hg38UCSC Ensembl
Outerchr11:18477123..18479885hg38UCSC Ensembl
chr11:18498684..18501418hg19UCSC Ensembl
Innerchr11:18498698..18501404hg19UCSC Ensembl
Outerchr11:18498670..18501432hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14043306
SamplesNA20897
Known GenesLDHAL6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625502
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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