A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660133



Internal ID9926238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96364963..96366251hg38UCSC Ensembl
Outerchr14:96364806..96366404hg38UCSC Ensembl
Innerchr14:96831300..96832588hg19UCSC Ensembl
Outerchr14:96831143..96832741hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381599
hg191599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5625524, essv6022115, essv5875171, essv5870263, essv5783110, essv5469758, essv6563083, essv6066752, essv6406959, essv5544665
SamplesHG00114, NA20537, HG00334, NA11930, HG00232, NA19982, NA11894, HG01101, HG00375, HG01377
Known GenesGSKIP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660133
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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