A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588157



Internal ID6975580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186775670..186789237hg38UCSC Ensembl
Innerchr1:186775701..186789206hg38UCSC Ensembl
Outerchr1:186775639..186789268hg38UCSC Ensembl
chr1:186744802..186758369hg19UCSC Ensembl
Innerchr1:186744833..186758338hg19UCSC Ensembl
Outerchr1:186744771..186758400hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3813568
hg1913568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10215476
SamplesHG01858
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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