A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596497



Internal ID6983812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69330675..69335695hg38UCSC Ensembl
Innerchr3:69330725..69335645hg38UCSC Ensembl
Outerchr3:69330605..69335765hg38UCSC Ensembl
chr3:69379826..69384846hg19UCSC Ensembl
Innerchr3:69379876..69384796hg19UCSC Ensembl
Outerchr3:69379756..69384916hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg385021
hg195021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11036869
SamplesHG04189
Known GenesFRMD4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596497
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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