A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601108



Internal ID6641366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78558856..78560171hg38UCSC Ensembl
Innerchr4:78558858..78560170hg38UCSC Ensembl
Outerchr4:78558855..78560173hg38UCSC Ensembl
chr4:79480010..79481325hg19UCSC Ensembl
Innerchr4:79480012..79481324hg19UCSC Ensembl
Outerchr4:79480009..79481327hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11514384, essv11514371, essv11514385, essv11514377, essv11514369, essv11514367, essv11514373, essv11514368, essv11514375, essv11514379, essv11514380, essv11514381, essv11514372, essv11514382, essv11514383, essv11514378, essv11514370, essv11514374, essv11514376
SamplesHG03279, NA19209, HG01885, HG02255, HG01915, HG02314, NA19429, HG02888, HG03473, HG02429, HG02386, HG02502, HG02364, HG03061, HG02181, HG03198, HG02186, HG03271, NA19456
Known GenesANXA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601108
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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