A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15792906



Internal ID5794722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6052286..6056412hg38UCSC Ensembl
Innerchr18:6052286..6056412hg38UCSC Ensembl
Outerchr18:6052137..6056543hg38UCSC Ensembl
chr18:6052285..6056411hg19UCSC Ensembl
Innerchr18:6052285..6056411hg19UCSC Ensembl
Outerchr18:6052136..6056542hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384127
hg194127
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641663
Supporting Variants
SamplesNA19064
Known GenesL3MBTL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15792906
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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