A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8837702



Internal ID13675496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154368308..154368308hg38UCSC Ensembl
Innerchr6:154368307..154368309hg38UCSC Ensembl
Outerchr6:154368248..154368358hg38UCSC Ensembl
chr6:154689442..154689442hg19UCSC Ensembl
Innerchr6:154689441..154689443hg19UCSC Ensembl
Outerchr6:154689382..154689492hg19UCSC Ensembl
chr6:154731134..154731134hg18UCSC Ensembl
Innerchr6:154731135..154731133hg18UCSC Ensembl
Outerchr6:154731074..154731184hg18UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3351402
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8837702
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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