A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664719



Internal ID9930824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127690657..127691378hg38UCSC Ensembl
chr8:128702902..128703623hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6310569, essv5518138, essv5836175, essv5669032, essv5405753, essv6579825, essv5551511, essv5708495, essv6339633, essv5772338
SamplesNA18502, NA19138, NA19904, NA18874, NA19917, NA19236, NA19114, NA18499, HG01108, NA19129
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664719
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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