A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586208



Internal ID6973728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60491053..60500432hg38UCSC Ensembl
Innerchr1:60491103..60500370hg38UCSC Ensembl
Outerchr1:60490933..60500552hg38UCSC Ensembl
chr1:60956725..60966104hg19UCSC Ensembl
Innerchr1:60956775..60966042hg19UCSC Ensembl
Outerchr1:60956605..60966224hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg389380
hg199380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9945932, essv9945925, essv9945927, essv9945930, essv9945924, essv9945931, essv9945935, essv9945934, essv9945928, essv9945926, essv9945929, essv9945933
SamplesHG03999, HG03603, HG03016, HG03722, HG02786, HG03595, HG03685, HG02790, HG02699, HG03872, HG03856, HG03931
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586208
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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