A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586986



Internal ID6974413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102019726..102030043hg38UCSC Ensembl
Innerchr1:102019740..102030029hg38UCSC Ensembl
Outerchr1:102019712..102030057hg38UCSC Ensembl
chr1:102485282..102495599hg19UCSC Ensembl
Innerchr1:102485296..102495585hg19UCSC Ensembl
Outerchr1:102485268..102495613hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3810318
hg1910318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10034695, essv10034701, essv10034696, essv10034698, essv10034697, essv10034700, essv10034694, essv10034699
SamplesHG02614, HG03455, HG03086, HG02819, HG03088, HG02807, HG02799, HG03442
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586986
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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