A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588972



Internal ID6976388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224457873..224465686hg38UCSC Ensembl
Innerchr1:224457873..224465686hg38UCSC Ensembl
Outerchr1:224457812..224465856hg38UCSC Ensembl
chr1:224645575..224653388hg19UCSC Ensembl
Innerchr1:224645575..224653388hg19UCSC Ensembl
Outerchr1:224645514..224653558hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg387814
hg197814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10307434
SamplesHG02019
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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