A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14182315



Internal ID4184131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63271047..63280513hg38UCSC Ensembl
Innerchr11:63271047..63280513hg38UCSC Ensembl
Outerchr11:63270547..63281013hg38UCSC Ensembl
chr11:63038519..63047985hg19UCSC Ensembl
Innerchr11:63038519..63047985hg19UCSC Ensembl
Outerchr11:63038019..63048485hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg389467
hg199467
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626631
Supporting Variants
SamplesHG01799
Known GenesMIR3680-1, MIR3680-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14182315
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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