A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929162



Internal ID4807875
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586027
Supporting Variants
SamplesNA11994
Known GenesC1orf185
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929162
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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