A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12643449



Internal ID2645265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167323380..167358297hg38UCSC Ensembl
chr6:167736868..167771785hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3834918
hg1934918
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611659
Supporting Variants
SamplesHG03460
Known GenesTTLL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12643449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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