A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6352517



Internal ID9329920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3504050..3507475hg38UCSC Ensembl
chr18:3504048..3507473hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383426
hg193426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669851
Supporting Variants
SamplesNA11994
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6352517
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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