A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663097



Internal ID9929202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44543808..44548001hg38UCSC Ensembl
chr6:44511545..44515738hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384194
hg194194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6043034, essv5416784, essv6534892, essv5627119, essv5522531, essv6341954, essv6416026, essv6307771, essv6173629
SamplesNA18924, NA19119, NA18874, NA19239, NA20765, NA18909, NA19240, NA19835, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663097
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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