A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670925



Internal ID9590344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64421743..64423817hg38UCSC Ensembl
Outerchr14:64421706..64423867hg38UCSC Ensembl
Innerchr14:64888461..64890535hg19UCSC Ensembl
Outerchr14:64888424..64890585hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382162
hg192162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6262320, essv5758478
SamplesHG00186, HG00273
Known GenesMIR548AZ, MTHFD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670925
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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