A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694245



Internal ID15080430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15703631..15704829hg38UCSC Ensembl
Innerchr4:15703829..15704631hg38UCSC Ensembl
Outerchr4:15702631..15705829hg38UCSC Ensembl
chr4:15705254..15706452hg19UCSC Ensembl
Innerchr4:15705452..15706254hg19UCSC Ensembl
Outerchr4:15704254..15707452hg19UCSC Ensembl
chr4:15314352..15315550hg18UCSC Ensembl
Innerchr4:15315352..15314550hg18UCSC Ensembl
Outerchr4:15313352..15316550hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345585
Supporting Variants
SamplesNA19240
Known GenesBST1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694245
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