A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1030122



Internal ID11846561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188980396..188980474hg38UCSC Ensembl
chr2:189845122..189845200hg19UCSC Ensembl
chr2:189553367..189553445hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4363516
SamplesHuRef
Known GenesCOL3A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1030122
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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