A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4328084



Internal ID11263936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42534281..42534349hg38UCSC Ensembl
chr5:42534383..42534451hg19UCSC Ensembl
chr5:42570140..42570208hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1542037
Supporting Variants
SamplesHuRef
Known GenesGHR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4328084
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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