A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626185



Internal ID6666334
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14118991
SamplesNA20504
Known GenesAMBRA1, CHRM4, DGKZ, MDK, MIR4688
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626185
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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