A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864647



Internal ID14645847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125158405..125158439hg38UCSC Ensembl
Innerchr6:125158358..125158486hg38UCSC Ensembl
Outerchr6:125158324..125158520hg38UCSC Ensembl
chr6:125479551..125479585hg19UCSC Ensembl
Innerchr6:125479504..125479632hg19UCSC Ensembl
Outerchr6:125479470..125479666hg19UCSC Ensembl
chr6:125521250..125521284hg18UCSC Ensembl
Innerchr6:125521331..125521203hg18UCSC Ensembl
Outerchr6:125521169..125521365hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424415
Supporting Variants
SamplesNA18961
Known GenesTPD52L1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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