A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15810969



Internal ID5812785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11896386..11898338hg38UCSC Ensembl
Innerchr18:11896386..11898338hg38UCSC Ensembl
Outerchr18:11896222..11898502hg38UCSC Ensembl
chr18:11896385..11898337hg19UCSC Ensembl
Innerchr18:11896385..11898337hg19UCSC Ensembl
Outerchr18:11896221..11898501hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381953
hg191953
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641820
Supporting Variants
SamplesNA19443
Known GenesMPPE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15810969
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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