A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602996



Internal ID6990029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:164545419..164549306hg38UCSC Ensembl
Innerchr4:164545429..164549296hg38UCSC Ensembl
Outerchr4:164545409..164549316hg38UCSC Ensembl
chr4:165466571..165470458hg19UCSC Ensembl
Innerchr4:165466581..165470448hg19UCSC Ensembl
Outerchr4:165466561..165470468hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg383888
hg193888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11677759, essv11677761, essv11677755, essv11677757, essv11677754, essv11677758, essv11677756, essv11677760
SamplesNA19055, NA19066, NA18988, HG03209, NA18986, HG03061, NA19000, HG03060
Known GenesMIR5684
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602996
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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