A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11707438



Internal ID1709254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173545438..173555636hg38UCSC Ensembl
Innerchr4:173545452..173555622hg38UCSC Ensembl
Outerchr4:173545424..173555650hg38UCSC Ensembl
chr4:174466589..174476787hg19UCSC Ensembl
Innerchr4:174466603..174476773hg19UCSC Ensembl
Outerchr4:174466575..174476801hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3810199
hg1910199
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603213
Supporting Variants
SamplesNA19027
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11707438
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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