A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3777241



Internal ID11637944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3556992..3556992hg38UCSC Ensembl
chr19:3556990..3556990hg19UCSC Ensembl
chr19:3507990..3507990hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1722786
Supporting Variants
SamplesHuRef
Known GenesMFSD12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3777241
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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