A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3764092



Internal ID11997778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31759446..31759446hg38UCSC Ensembl
chr13:32333583..32333583hg19UCSC Ensembl
chr13:31231583..31231583hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3883
hg1983
hg1883
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1279252
Supporting Variants
SamplesHuRef
Known GenesRXFP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3764092
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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