A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4253489



Internal ID11189341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56106814..56106814hg38UCSC Ensembl
chr19:56618183..56618183hg19UCSC Ensembl
chr19:61309995..61309995hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1027952
Supporting Variants
SamplesHuRef
Known GenesZNF787
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4253489
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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