A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4272371



Internal ID11554909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57110558..57110664hg38UCSC Ensembl
chr20:55685614..55685720hg19UCSC Ensembl
chr20:55119021..55119127hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38107
hg19107
hg18107
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1640889
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4272371
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer