A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4247016



Internal ID11529554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43374952..43375558hg38UCSC Ensembl
chr1:43840623..43841229hg19UCSC Ensembl
chr1:43613210..43613816hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38607
hg19607
hg18607
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1418115
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4247016
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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