A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585551



Internal ID6625868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27003497..27030491hg38UCSC Ensembl
Innerchr1:27003647..27030341hg38UCSC Ensembl
Outerchr1:27003347..27030641hg38UCSC Ensembl
chr1:27329988..27356982hg19UCSC Ensembl
Innerchr1:27330138..27356832hg19UCSC Ensembl
Outerchr1:27329838..27357132hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3826995
hg1926995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894200
SamplesHG00368
Known GenesFAM46B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585551
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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