A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348405



Internal ID14848670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56106815..56106815hg38UCSC Ensembl
Innerchr19:56106814..56106816hg38UCSC Ensembl
Outerchr19:56106755..56106865hg38UCSC Ensembl
chr19:56618184..56618184hg19UCSC Ensembl
Innerchr19:56618183..56618185hg19UCSC Ensembl
Outerchr19:56618124..56618234hg19UCSC Ensembl
chr19:61309996..61309996hg18UCSC Ensembl
Innerchr19:61309997..61309995hg18UCSC Ensembl
Outerchr19:61309936..61310046hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8822418
SamplesNA12878
Known GenesZNF787
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348405
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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