A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12182832



Internal ID6364457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6058847..6129124hg38UCSC Ensembl
chr6:6059080..6129357hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3870278
hg1970278
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607991
Supporting Variants
SamplesNA20294
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12182832
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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