A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12703861



Internal ID6344563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23222500..23224139hg38UCSC Ensembl
Innerchr7:23222530..23224109hg38UCSC Ensembl
Outerchr7:23222470..23224169hg38UCSC Ensembl
chr7:23262119..23263758hg19UCSC Ensembl
Innerchr7:23262149..23263728hg19UCSC Ensembl
Outerchr7:23262089..23263788hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381640
hg191640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612540
Supporting Variants
SamplesNA20274
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12703861
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