A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8841048



Internal ID13307620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89161618..89161618hg38UCSC Ensembl
Innerchr7:89161617..89161619hg38UCSC Ensembl
Outerchr7:89161558..89161668hg38UCSC Ensembl
chr7:88790932..88790932hg19UCSC Ensembl
Innerchr7:88790931..88790933hg19UCSC Ensembl
Outerchr7:88790872..88790982hg19UCSC Ensembl
chr7:88628868..88628868hg18UCSC Ensembl
Innerchr7:88628869..88628867hg18UCSC Ensembl
Outerchr7:88628808..88628918hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3393154
Supporting Variants
SamplesNA12878
Known GenesZNF804B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8841048
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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