A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4047584



Internal ID11714290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62825128..62825200hg38UCSC Ensembl
chr20:61456480..61456552hg19UCSC Ensembl
chr20:60926925..60926997hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1317287
Supporting Variants
SamplesHuRef
Known GenesCOL9A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4047584
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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