A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668185



Internal ID9587604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49704420..49707356hg38UCSC Ensembl
Outerchr14:49704386..49707391hg38UCSC Ensembl
Innerchr14:50171138..50174074hg19UCSC Ensembl
Outerchr14:50171104..50174109hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg383006
hg193006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv396e199
Supporting Variantsessv5776393
SamplesHG00702
Known GenesKLHDC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668185
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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