A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3945657



Internal ID11816215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134760064..134760818hg38UCSC Ensembl
chr9:137651910..137652664hg19UCSC Ensembl
chr9:136791731..136792485hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38755
hg19755
hg18755
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1302373
Supporting Variants
SamplesHuRef
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3945657
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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