A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6173036



Internal ID9150439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5996986..5997407hg38UCSC Ensembl
chr18:5996985..5997406hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658589
Supporting Variants
SamplesNA19311
Known GenesL3MBTL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6173036
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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