A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1037738



Internal ID12200864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40248982..40249057hg38UCSC Ensembl
chr19:40754889..40754964hg19UCSC Ensembl
chr19:45446729..45446804hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4080544
SamplesHuRef
Known GenesAKT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1037738
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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