A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11401389



Internal ID1403205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39582338..39587674hg38UCSC Ensembl
Innerchr4:39582338..39587674hg38UCSC Ensembl
Outerchr4:39582143..39587946hg38UCSC Ensembl
chr4:39583958..39589294hg19UCSC Ensembl
Innerchr4:39583958..39589294hg19UCSC Ensembl
Outerchr4:39583763..39589566hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg385337
hg195337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600287
Supporting Variants
SamplesHG03354
Known GenesMIR1273H, SMIM14, UGDH-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11401389
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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