A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691249



Internal ID15028497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59688240..59689838hg38UCSC Ensembl
Innerchr18:59688838..59689240hg38UCSC Ensembl
Outerchr18:59687240..59690838hg38UCSC Ensembl
chr18:57355472..57357070hg19UCSC Ensembl
Innerchr18:57356070..57356472hg19UCSC Ensembl
Outerchr18:57354472..57358070hg19UCSC Ensembl
chr18:55506452..55508050hg18UCSC Ensembl
Innerchr18:55507452..55507050hg18UCSC Ensembl
Outerchr18:55505452..55509050hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427131
Supporting Variants
SamplesNA19238
Known GenesCCBE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691249
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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