A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992156



Internal ID3993972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:883903..889936hg38UCSC Ensembl
Innerchr11:883943..889897hg38UCSC Ensembl
Outerchr11:883864..889976hg38UCSC Ensembl
chr11:883903..889936hg19UCSC Ensembl
Innerchr11:883943..889897hg19UCSC Ensembl
Outerchr11:883864..889976hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg386034
hg196034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625089
Supporting Variants
SamplesHG00242
Known GenesCHID1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992156
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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