A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4119710



Internal ID11402249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9196143..9196143hg38UCSC Ensembl
chr18:9196141..9196141hg19UCSC Ensembl
chr18:9186141..9186141hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1632576
Supporting Variants
SamplesHuRef
Known GenesANKRD12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4119710
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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