A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4157909



Internal ID11093762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32253888..32253888hg38UCSC Ensembl
chr12:32406822..32406822hg19UCSC Ensembl
chr12:32298089..32298089hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1653085
Supporting Variants
SamplesHuRef
Known GenesBICD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4157909
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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