A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585029



Internal ID6972553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2593107..2596288hg38UCSC Ensembl
Innerchr1:2593119..2596277hg38UCSC Ensembl
Outerchr1:2593096..2596300hg38UCSC Ensembl
chr1:2524546..2527727hg19UCSC Ensembl
Innerchr1:2524558..2527716hg19UCSC Ensembl
Outerchr1:2524535..2527739hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg383182
hg193182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841730
SamplesHG04225
Known GenesMMEL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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