A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428408



Internal ID14928678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71272982..71272992hg38UCSC Ensembl
Innerchr7:71272974..71273000hg38UCSC Ensembl
Outerchr7:71272961..71273010hg38UCSC Ensembl
chr7:70737968..70737978hg19UCSC Ensembl
Innerchr7:70737960..70737986hg19UCSC Ensembl
Outerchr7:70737947..70737996hg19UCSC Ensembl
chr7:70375904..70375914hg18UCSC Ensembl
Innerchr7:70375922..70375896hg18UCSC Ensembl
Outerchr7:70375883..70375932hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676852, essv8676854
SamplesNA19239, NA19240
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428408
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