A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442986



Internal ID15289939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38438572..38438584hg38UCSC Ensembl
Innerchr7:38438570..38438584hg38UCSC Ensembl
Outerchr7:38438558..38438596hg38UCSC Ensembl
chr7:38478172..38478184hg19UCSC Ensembl
Innerchr7:38478170..38478184hg19UCSC Ensembl
Outerchr7:38478158..38478196hg19UCSC Ensembl
chr7:38444697..38444709hg18UCSC Ensembl
Innerchr7:38444709..38444695hg18UCSC Ensembl
Outerchr7:38444683..38444721hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676792, essv8676791
SamplesNA12878, NA12892
Known GenesAMPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442986
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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