A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585154



Internal ID6625472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8864007..8865335hg38UCSC Ensembl
Innerchr1:8864013..8865329hg38UCSC Ensembl
Outerchr1:8864001..8865341hg38UCSC Ensembl
chr1:8924066..8925394hg19UCSC Ensembl
Innerchr1:8924072..8925388hg19UCSC Ensembl
Outerchr1:8924060..8925400hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9849709
SamplesHG02058
Known GenesENO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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