A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695244



Internal ID14745252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31828196..31830394hg38UCSC Ensembl
Innerchr6:31829196..31829394hg38UCSC Ensembl
Outerchr6:31827196..31831394hg38UCSC Ensembl
chr6:31795973..31798171hg19UCSC Ensembl
Innerchr6:31796973..31797171hg19UCSC Ensembl
Outerchr6:31794973..31799171hg19UCSC Ensembl
chr6:31903952..31906150hg18UCSC Ensembl
Innerchr6:31904952..31905150hg18UCSC Ensembl
Outerchr6:31902952..31907150hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329350
Supporting Variants
SamplesNA19240
Known GenesHSPA1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695244
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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