A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586027



Internal ID6973546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51124965..51138057hg38UCSC Ensembl
chr1:51590637..51603729hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3813093
hg1913093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929160, essv9929163, essv9929165, essv9929159, essv9929162, essv9929164, essv9929161
SamplesNA20531, HG00590, NA11994, HG00108, NA12763, NA20847, HG01914
Known GenesC1orf185
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586027
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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