A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4089286



Internal ID11325903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79409014..79409214hg38UCSC Ensembl
chr18:77169014..77169214hg19UCSC Ensembl
chr18:75270002..75270202hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1785248
Supporting Variants
SamplesHuRef
Known GenesNFATC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4089286
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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