A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9631226



Internal ID13593215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131999280..131999299hg38UCSC Ensembl
Innerchr6:131999276..131999303hg38UCSC Ensembl
Outerchr6:131999257..131999322hg38UCSC Ensembl
chr6:132320420..132320439hg19UCSC Ensembl
Innerchr6:132320416..132320443hg19UCSC Ensembl
Outerchr6:132320397..132320462hg19UCSC Ensembl
chr6:132362113..132362132hg18UCSC Ensembl
Innerchr6:132362136..132362109hg18UCSC Ensembl
Outerchr6:132362090..132362155hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359562
Supporting Variants
SamplesNA12812
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9631226
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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