A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665331



Internal ID9584750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87937208..88153548hg38UCSC Ensembl
Outerchr4:87937174..88153583hg38UCSC Ensembl
Innerchr4:88858360..89074700hg19UCSC Ensembl
Outerchr4:88858326..89074735hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38216410
hg19216410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6579953
SamplesHG00589
Known GenesABCG2, PKD2, SPP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665331
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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