A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664367



Internal ID9930472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143285794..143290165hg38UCSC Ensembl
chr6:143606931..143611302hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg384372
hg194372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6391538
SamplesNA19093
Known GenesAIG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664367
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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