A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338832



Internal ID14839102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76102655..76102667hg38UCSC Ensembl
Innerchr4:76102646..76102673hg38UCSC Ensembl
Outerchr4:76102634..76102688hg38UCSC Ensembl
chr4:77023808..77023820hg19UCSC Ensembl
Innerchr4:77023799..77023826hg19UCSC Ensembl
Outerchr4:77023787..77023841hg19UCSC Ensembl
chr4:77242832..77242844hg18UCSC Ensembl
Innerchr4:77242850..77242823hg18UCSC Ensembl
Outerchr4:77242811..77242865hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919373, essv8919375, essv8919377, essv8919388, essv8919371, essv8919383, essv8919374, essv8919391, essv8919376, essv8919369, essv8919379, essv8919368, essv8919367, essv8919372, essv8919363, essv8919385, essv8919364, essv8919387, essv8919362, essv8919384, essv8919382, essv8919365, essv8919378, essv8919366, essv8919390, essv8919386, essv8919380, essv8919389
SamplesNA18561, NA18603, NA12751, NA18959, NA12750, NA07357, NA18944, NA18547, NA11992, NA18571, NA18964, NA18949, NA18605, NA12003, NA18948, NA18566, NA12249, NA18570, NA18945, NA18576, NA12043, NA18542, NA18564, NA18609, NA18552, NA07000, NA12154, NA18562
Known GenesART3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338832
Frequency
Sample Size185
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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