A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586748



Internal ID6974266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88871869..88873341hg38UCSC Ensembl
Innerchr1:88871897..88873313hg38UCSC Ensembl
Outerchr1:88871841..88873369hg38UCSC Ensembl
chr1:89337552..89339024hg19UCSC Ensembl
Innerchr1:89337580..89338996hg19UCSC Ensembl
Outerchr1:89337524..89339052hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10009997, essv10009996
SamplesHG03950, HG03730
Known GenesGTF2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586748
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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