A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585043



Internal ID6972567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3592400..3598695hg38UCSC Ensembl
Innerchr1:3592428..3598668hg38UCSC Ensembl
Outerchr1:3592373..3598723hg38UCSC Ensembl
chr1:3508964..3515259hg19UCSC Ensembl
Innerchr1:3508992..3515232hg19UCSC Ensembl
Outerchr1:3508937..3515287hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg386296
hg196296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841975
SamplesHG03571
Known GenesMEGF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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