A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4134190



Internal ID11070043
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1724904
Supporting Variants
SamplesHuRef
Known GenesEHMT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4134190
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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