A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8840123



Internal ID13297323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37427385..37427385hg38UCSC Ensembl
Innerchr7:37427384..37427386hg38UCSC Ensembl
Outerchr7:37427325..37427435hg38UCSC Ensembl
chr7:37466988..37466988hg19UCSC Ensembl
Innerchr7:37466987..37466989hg19UCSC Ensembl
Outerchr7:37466928..37467038hg19UCSC Ensembl
chr7:37433513..37433513hg18UCSC Ensembl
Innerchr7:37433514..37433512hg18UCSC Ensembl
Outerchr7:37433453..37433563hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3344008
Supporting Variants
SamplesNA12878
Known GenesELMO1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8840123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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