A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5953210



Internal ID8930613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149759123..149759743hg38UCSC Ensembl
chr6:150080259..150080879hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678537
Supporting Variants
SamplesNA18943
Known GenesPCMT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5953210
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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