A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346976



Internal ID14847241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73406541..73406560hg38UCSC Ensembl
Innerchr4:73406537..73406564hg38UCSC Ensembl
Outerchr4:73406518..73406583hg38UCSC Ensembl
chr4:74272258..74272277hg19UCSC Ensembl
Innerchr4:74272254..74272281hg19UCSC Ensembl
Outerchr4:74272235..74272300hg19UCSC Ensembl
chr4:74491122..74491141hg18UCSC Ensembl
Innerchr4:74491145..74491118hg18UCSC Ensembl
Outerchr4:74491099..74491164hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678895
SamplesNA12878
Known GenesALB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346976
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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