A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4070029



Internal ID11691845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149079466..149079520hg38UCSC Ensembl
chr3:148797253..148797307hg19UCSC Ensembl
chr3:150279943..150279997hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1349617
Supporting Variants
SamplesHuRef
Known GenesHLTF
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4070029
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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