A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12508964



Internal ID2510780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:114291027..114304522hg38UCSC Ensembl
chr6:114612191..114625686hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3813496
hg1913496
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610430
Supporting Variants
SamplesHG01360
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12508964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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