A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12495643



Internal ID4400815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104416510..104488616hg38UCSC Ensembl
chr6:104864385..104936491hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3872107
hg1972107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610242
Supporting Variants
SamplesHG03919
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12495643
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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