A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695100



Internal ID15050811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167037174..167038272hg38UCSC Ensembl
Innerchr6:167037272..167038174hg38UCSC Ensembl
Outerchr6:167036174..167039272hg38UCSC Ensembl
chr6:167450662..167451760hg19UCSC Ensembl
Innerchr6:167450760..167451662hg19UCSC Ensembl
Outerchr6:167449662..167452760hg19UCSC Ensembl
chr6:167370652..167371750hg18UCSC Ensembl
Innerchr6:167371652..167370750hg18UCSC Ensembl
Outerchr6:167369652..167372750hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3355616
Supporting Variants
SamplesNA19239
Known GenesFGFR1OP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695100
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