A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12594591



Internal ID3385634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154968943..155015140hg38UCSC Ensembl
chr6:155290077..155336274hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3846198
hg1946198
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611333
Supporting Variants
SamplesHG03028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12594591
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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