A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601200



Internal ID6988238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83546096..83547364hg38UCSC Ensembl
Innerchr4:83546141..83547320hg38UCSC Ensembl
Outerchr4:83546052..83547409hg38UCSC Ensembl
chr4:84467249..84468517hg19UCSC Ensembl
Innerchr4:84467294..84468473hg19UCSC Ensembl
Outerchr4:84467205..84468562hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381269
hg191269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11521235, essv11521238, essv11521241, essv11521236, essv11521239, essv11521240, essv11521237
SamplesHG01079, HG03105, HG00590, HG03114, NA18853, HG03469, HG03433
Known GenesAGPAT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601200
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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