A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118991



Internal ID4120807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46361673..46411056hg38UCSC Ensembl
Innerchr11:46361673..46411056hg38UCSC Ensembl
Outerchr11:46361173..46411556hg38UCSC Ensembl
chr11:46383223..46432606hg19UCSC Ensembl
Innerchr11:46383223..46432606hg19UCSC Ensembl
Outerchr11:46382723..46433106hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3849384
hg1949384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626185
Supporting Variants
SamplesNA20504
Known GenesAMBRA1, CHRM4, DGKZ, MDK, MIR4688
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118991
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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