A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600708



Internal ID6987748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62650418..62652221hg38UCSC Ensembl
Innerchr4:62650418..62652221hg38UCSC Ensembl
Outerchr4:62650204..62652483hg38UCSC Ensembl
chr4:63516136..63517939hg19UCSC Ensembl
Innerchr4:63516136..63517939hg19UCSC Ensembl
Outerchr4:63515922..63518201hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381804
hg191804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11457304, essv11457302, essv11457301, essv11457303, essv11457300
SamplesHG03370, NA18864, NA19247, NA19308, HG01883
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600708
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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