A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12729389



Internal ID2731205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35190458..35245048hg38UCSC Ensembl
chr7:35230070..35284660hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3854591
hg1954591
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612812
Supporting Variants
SamplesNA20846
Known GenesTBX20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12729389
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