A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13657368



Internal ID3659184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136844335..136854427hg38UCSC Ensembl
chr9:139738787..139748879hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3810093
hg1910093
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622017
Supporting Variants
SamplesHG00234
Known GenesC9orf172, MAMDC4, PHPT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13657368
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