A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11641015



Internal ID1245324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144551503..144553046hg38UCSC Ensembl
Innerchr4:144551553..144552996hg38UCSC Ensembl
Outerchr4:144551453..144553096hg38UCSC Ensembl
chr4:145472655..145474198hg19UCSC Ensembl
Innerchr4:145472705..145474148hg19UCSC Ensembl
Outerchr4:145472605..145474248hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602545
Supporting Variants
SamplesHG01101
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11641015
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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