A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4085187



Internal ID11676688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55360401..55360401hg38UCSC Ensembl
chr19:55871769..55871769hg19UCSC Ensembl
chr19:60563581..60563581hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38109
hg19109
hg18109
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1487088
Supporting Variants
SamplesHuRef
Known GenesFAM71E2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4085187
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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