A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4074417



Internal ID11687457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110252496..110252562hg38UCSC Ensembl
chr13:110904843..110904909hg19UCSC Ensembl
chr13:109702844..109702910hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1710742
Supporting Variants
SamplesHuRef
Known GenesCOL4A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4074417
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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