A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11476617



Internal ID5573447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67318608..67321957hg38UCSC Ensembl
Innerchr4:67318608..67321957hg38UCSC Ensembl
Outerchr4:67318511..67322029hg38UCSC Ensembl
chr4:68184326..68187675hg19UCSC Ensembl
Innerchr4:68184326..68187675hg19UCSC Ensembl
Outerchr4:68184229..68187747hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600845
Supporting Variants
SamplesNA19020
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11476617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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