A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4363516



Internal ID11299368
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1030122
Supporting Variants
SamplesHuRef
Known GenesCOL3A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4363516
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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