A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12878343



Internal ID6037433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85727793..85732041hg38UCSC Ensembl
Innerchr7:85727793..85732041hg38UCSC Ensembl
Outerchr7:85727486..85732270hg38UCSC Ensembl
chr7:85357109..85361357hg19UCSC Ensembl
Innerchr7:85357109..85361357hg19UCSC Ensembl
Outerchr7:85356802..85361586hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg384249
hg194249
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614002
Supporting Variants
SamplesNA19439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12878343
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