A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676374



Internal ID13299474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30030700..30030710hg38UCSC Ensembl
Innerchr6:30030696..30030712hg38UCSC Ensembl
Outerchr6:30030686..30030722hg38UCSC Ensembl
chr6:29998477..29998487hg19UCSC Ensembl
Innerchr6:29998473..29998489hg19UCSC Ensembl
Outerchr6:29998463..29998499hg19UCSC Ensembl
chr6:30106456..30106466hg18UCSC Ensembl
Innerchr6:30106468..30106452hg18UCSC Ensembl
Outerchr6:30106442..30106478hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3343005
Supporting Variants
SamplesNA12878
Known GenesZNRD1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676374
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer