A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659625



Internal ID9925730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38548500..38550146hg38UCSC Ensembl
Outerchr8:38548463..38550196hg38UCSC Ensembl
Innerchr8:38406018..38407664hg19UCSC Ensembl
Outerchr8:38405981..38407714hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381734
hg191734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5938510, essv6403526, essv6561377, essv6268508
SamplesHG00139, HG00250, HG00734, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659625
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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