A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8822417



Internal ID13676284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56106735..56106735hg38UCSC Ensembl
Innerchr19:56106734..56106736hg38UCSC Ensembl
Outerchr19:56106675..56106785hg38UCSC Ensembl
chr19:56618104..56618104hg19UCSC Ensembl
Innerchr19:56618103..56618105hg19UCSC Ensembl
Outerchr19:56618044..56618154hg19UCSC Ensembl
chr19:61309916..61309916hg18UCSC Ensembl
Innerchr19:61309917..61309915hg18UCSC Ensembl
Outerchr19:61309856..61309966hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3431520
Supporting Variants
SamplesNA12878
Known GenesZNF787
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8822417
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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