A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12172255



Internal ID1496632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1135847..1213759hg38UCSC Ensembl
chr6:1136082..1213994hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3877913
hg1977913
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607883
Supporting Variants
SamplesHG01375
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12172255
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