A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588997



Internal ID6976413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225557582..225560997hg38UCSC Ensembl
Innerchr1:225557628..225560952hg38UCSC Ensembl
Outerchr1:225557537..225561043hg38UCSC Ensembl
chr1:225745284..225748699hg19UCSC Ensembl
Innerchr1:225745330..225748654hg19UCSC Ensembl
Outerchr1:225745239..225748745hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg383416
hg193416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10308297
SamplesHG04238
Known GenesENAH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588997
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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