A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587311



Internal ID6974738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117282187..117285450hg38UCSC Ensembl
Innerchr1:117282187..117285450hg38UCSC Ensembl
Outerchr1:117281987..117285785hg38UCSC Ensembl
chr1:117824809..117828072hg19UCSC Ensembl
Innerchr1:117824809..117828072hg19UCSC Ensembl
Outerchr1:117824609..117828407hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg383264
hg193264
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10081546
SamplesHG02725
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587311
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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