A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601590



Internal ID6641845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101158667..101160687hg38UCSC Ensembl
Innerchr4:101158669..101160686hg38UCSC Ensembl
Outerchr4:101158666..101160689hg38UCSC Ensembl
chr4:102079824..102081844hg19UCSC Ensembl
Innerchr4:102079826..102081843hg19UCSC Ensembl
Outerchr4:102079823..102081846hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382021
hg192021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11544849, essv11544848, essv11544847, essv11544846
SamplesHG01182, HG01375, HG01187, HG01198
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601590
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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