A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1724904



Internal ID12541336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137721326..137721326hg38UCSC Ensembl
chr9:140615778..140615778hg19UCSC Ensembl
chr9:139735599..139735599hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4134190
SamplesHuRef
Known GenesEHMT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1724904
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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