A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310394



Internal ID15157345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73406550..73406551hg38UCSC Ensembl
Innerchr4:73406528..73406573hg38UCSC Ensembl
Outerchr4:73406527..73406574hg38UCSC Ensembl
chr4:74272267..74272268hg19UCSC Ensembl
Innerchr4:74272245..74272290hg19UCSC Ensembl
Outerchr4:74272244..74272291hg19UCSC Ensembl
chr4:74491131..74491132hg18UCSC Ensembl
Innerchr4:74491154..74491109hg18UCSC Ensembl
Outerchr4:74491108..74491155hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38720
hg19720
hg18720
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839716
SamplesNA12878
Known GenesALB
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310394
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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