A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669570



Internal ID9935675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:57855877..57858839hg38UCSC Ensembl
Outerchr14:57855840..57858889hg38UCSC Ensembl
Innerchr14:58322595..58325557hg19UCSC Ensembl
Outerchr14:58322558..58325607hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6549449, essv5463591
SamplesNA18510, NA19462
Known GenesSLC35F4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669570
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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