A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11429712



Internal ID3280216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49035019..49046361hg38UCSC Ensembl
Innerchr4:49035046..49046335hg38UCSC Ensembl
Outerchr4:49034993..49046388hg38UCSC Ensembl
chr4:49037036..49048378hg19UCSC Ensembl
Innerchr4:49037063..49048352hg19UCSC Ensembl
Outerchr4:49037010..49048405hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3811343
hg1911343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600474
Supporting Variants
SamplesHG02891
Known GenesCWH43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11429712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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