A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15895644



Internal ID3498176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59547222..59548716hg38UCSC Ensembl
Innerchr18:59547232..59548706hg38UCSC Ensembl
Outerchr18:59547212..59548726hg38UCSC Ensembl
chr18:57214454..57215948hg19UCSC Ensembl
Innerchr18:57214464..57215938hg19UCSC Ensembl
Outerchr18:57214444..57215958hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381495
hg191495
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642664
Supporting Variants
SamplesHG03105
Known GenesCCBE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15895644
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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