A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541008



Internal ID18742084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1037152..1040192hg38UCSC Ensembl
Outerchr7:1036365..1040462hg38UCSC Ensembl
Innerchr7:1076788..1079828hg19UCSC Ensembl
Outerchr7:1076001..1080098hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg384098
hg194098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739755
Samples
Known GenesC7orf50
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541008
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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