A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992148



Internal ID3993964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:857076..1043855hg38UCSC Ensembl
Innerchr11:857226..1043705hg38UCSC Ensembl
Outerchr11:856926..1044005hg38UCSC Ensembl
chr11:857076..1043855hg19UCSC Ensembl
Innerchr11:857226..1043705hg19UCSC Ensembl
Outerchr11:856926..1044005hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38186780
hg19186780
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625085
Supporting Variants
SamplesHG03363
Known GenesAP2A2, CHID1, MUC6, TSPAN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992148
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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