A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662791



Internal ID9928896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87716650..87719634hg38UCSC Ensembl
chr6:88426368..88429352hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg382985
hg192985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6492638, essv6257564, essv6357042, essv6427286, essv5836997
SamplesHG00261, HG00149, NA20519, HG00155, NA12830
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662791
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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