A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11630038



Internal ID1631854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138045035..138046056hg38UCSC Ensembl
Innerchr4:138045036..138046056hg38UCSC Ensembl
Outerchr4:138045035..138046057hg38UCSC Ensembl
chr4:138966189..138967210hg19UCSC Ensembl
Innerchr4:138966190..138967210hg19UCSC Ensembl
Outerchr4:138966189..138967211hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602409
Supporting Variants
SamplesHG00159
Known GenesLINC00616
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11630038
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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