A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9631314



Internal ID13618097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136045878..136045897hg38UCSC Ensembl
Innerchr6:136045874..136045901hg38UCSC Ensembl
Outerchr6:136045855..136045920hg38UCSC Ensembl
chr6:136367016..136367035hg19UCSC Ensembl
Innerchr6:136367012..136367039hg19UCSC Ensembl
Outerchr6:136366993..136367058hg19UCSC Ensembl
chr6:136408709..136408728hg18UCSC Ensembl
Innerchr6:136408732..136408705hg18UCSC Ensembl
Outerchr6:136408686..136408751hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444994
Supporting Variants
SamplesNA12873
Known GenesPDE7B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9631314
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