A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6401247



Internal ID9295648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:71423955..71427645hg38UCSC Ensembl
Outerchr4:71423918..71427695hg38UCSC Ensembl
Innerchr4:72289672..72293362hg19UCSC Ensembl
Outerchr4:72289635..72293412hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg383778
hg193778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669073
Supporting Variants
SamplesNA12842
Known GenesSLC4A4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6401247
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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