A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4217792



Internal ID11500330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63571192..63571192hg38UCSC Ensembl
chr20:62202545..62202545hg19UCSC Ensembl
chr20:61672989..61672989hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1272786
Supporting Variants
SamplesHuRef
Known GenesHELZ2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4217792
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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