A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596330



Internal ID6983647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61087272..61128557hg38UCSC Ensembl
chr3:61072945..61114230hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3841286
hg1941286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11025985, essv11025986, essv11025984
SamplesNA18621, HG00620, HG00595
Known GenesFHIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596330
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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