A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12951383



Internal ID4139755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:125150198..125152516hg38UCSC Ensembl
Innerchr7:125150207..125152507hg38UCSC Ensembl
Outerchr7:125150189..125152525hg38UCSC Ensembl
chr7:124790252..124792570hg19UCSC Ensembl
Innerchr7:124790261..124792561hg19UCSC Ensembl
Outerchr7:124790243..124792579hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg382319
hg192319
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614892
Supporting Variants
SamplesHG03750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12951383
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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