A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15795676



Internal ID3413335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9111535..9112130hg38UCSC Ensembl
Innerchr18:9111567..9112098hg38UCSC Ensembl
Outerchr18:9111503..9112162hg38UCSC Ensembl
chr18:9111533..9112128hg19UCSC Ensembl
Innerchr18:9111565..9112096hg19UCSC Ensembl
Outerchr18:9111501..9112160hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641733
Supporting Variants
SamplesHG03055
Known GenesNDUFV2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15795676
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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