A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118994



Internal ID4120810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46557509..46570127hg38UCSC Ensembl
Innerchr11:46557519..46570117hg38UCSC Ensembl
Outerchr11:46557499..46570137hg38UCSC Ensembl
chr11:46579059..46591677hg19UCSC Ensembl
Innerchr11:46579069..46591667hg19UCSC Ensembl
Outerchr11:46579049..46591687hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3812619
hg1912619
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626188
Supporting Variants
SamplesHG00118
Known GenesAMBRA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118994
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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