A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11634976



Internal ID6161854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141203100..141215146hg38UCSC Ensembl
Innerchr4:141203107..141215139hg38UCSC Ensembl
Outerchr4:141203093..141215153hg38UCSC Ensembl
chr4:142124254..142136300hg19UCSC Ensembl
Innerchr4:142124261..142136293hg19UCSC Ensembl
Outerchr4:142124247..142136307hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3812047
hg1912047
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602460
Supporting Variants
SamplesNA19703
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11634976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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