A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4118497



Internal ID11054350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1212782..1212782hg38UCSC Ensembl
chr10:1258722..1258722hg19UCSC Ensembl
chr10:1248722..1248722hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1424351
Supporting Variants
SamplesHuRef
Known GenesADARB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4118497
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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