A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9677524



Internal ID14359325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76851083..76851102hg38UCSC Ensembl
Innerchr18:76851079..76851106hg38UCSC Ensembl
Outerchr18:76851060..76851125hg38UCSC Ensembl
chr18:74563039..74563058hg19UCSC Ensembl
Innerchr18:74563035..74563062hg19UCSC Ensembl
Outerchr18:74563016..74563081hg19UCSC Ensembl
chr18:72692027..72692046hg18UCSC Ensembl
Innerchr18:72692050..72692023hg18UCSC Ensembl
Outerchr18:72692004..72692069hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3376995
Supporting Variants
SamplesNA18970
Known GenesZNF236
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9677524
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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