A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367657



Internal ID15214633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7507904..7507904hg38UCSC Ensembl
Innerchr19:7507903..7507905hg38UCSC Ensembl
Outerchr19:7507844..7507954hg38UCSC Ensembl
chr19:7572790..7572790hg19UCSC Ensembl
Innerchr19:7572789..7572791hg19UCSC Ensembl
Outerchr19:7572730..7572840hg19UCSC Ensembl
chr19:7478790..7478790hg18UCSC Ensembl
Innerchr19:7478791..7478789hg18UCSC Ensembl
Outerchr19:7478730..7478840hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8822459
SamplesNA12878
Known GenesC19orf45
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367657
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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