A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4025556



Internal ID11389632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40955402..40955529hg38UCSC Ensembl
chr13:41529538..41529665hg19UCSC Ensembl
chr13:40427538..40427665hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1709140
Supporting Variants
SamplesHuRef
Known GenesELF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4025556
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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