A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913147



Internal ID2914963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104096478..104186166hg38UCSC Ensembl
chr7:103736925..103826614hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3889689
hg1989690
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614386
Supporting Variants
SamplesNA19783
Known GenesORC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913147
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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