A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11438149



Internal ID1252916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53699664..53701607hg38UCSC Ensembl
Innerchr4:53699665..53701607hg38UCSC Ensembl
Outerchr4:53699664..53701608hg38UCSC Ensembl
chr4:54565831..54567774hg19UCSC Ensembl
Innerchr4:54565832..54567774hg19UCSC Ensembl
Outerchr4:54565831..54567775hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381944
hg191944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600531
Supporting Variants
SamplesHG01105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11438149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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