A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11642100



Internal ID925934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145526551..145527901hg38UCSC Ensembl
Innerchr4:145526556..145527897hg38UCSC Ensembl
Outerchr4:145526547..145527906hg38UCSC Ensembl
chr4:146447703..146449053hg19UCSC Ensembl
Innerchr4:146447708..146449049hg19UCSC Ensembl
Outerchr4:146447699..146449058hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602562
Supporting Variants
SamplesHG00553
Known GenesSMAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11642100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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