A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600665



Internal ID6987706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:60247120..60275455hg38UCSC Ensembl
chr4:61112838..61141173hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3828336
hg1928336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11447624, essv11447625
SamplesHG01853, HG02048
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600665
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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