A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658338



Internal ID9924443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7984041..7986775hg38UCSC Ensembl
chr6:7984274..7987008hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5678468
SamplesHG00190
Known GenesBLOC1S5-TXNDC5, PIP5K1P1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658338
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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