A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12881189



Internal ID2883005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89048127..89049172hg38UCSC Ensembl
Innerchr7:89048128..89049171hg38UCSC Ensembl
Outerchr7:89048126..89049173hg38UCSC Ensembl
chr7:88677441..88678486hg19UCSC Ensembl
Innerchr7:88677442..88678485hg19UCSC Ensembl
Outerchr7:88677440..88678487hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614066
Supporting Variants
SamplesHG03045
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12881189
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