A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7833325



Internal ID13129730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70227587..70227588hg38UCSC Ensembl
Innerchr4:70227570..70227605hg38UCSC Ensembl
Outerchr4:70227569..70227606hg38UCSC Ensembl
chr4:71093304..71093305hg19UCSC Ensembl
Innerchr4:71093287..71093322hg19UCSC Ensembl
Outerchr4:71093286..71093323hg19UCSC Ensembl
chr4:71127893..71127894hg18UCSC Ensembl
Innerchr4:71127911..71127876hg18UCSC Ensembl
Outerchr4:71127875..71127912hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38836
hg19836
hg18836
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303928
Supporting Variants
SamplesNA11830
Known GenesFDCSP
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7833325
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