A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4166864



Internal ID11449402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71962837..71964401hg38UCSC Ensembl
chr12:72356617..72358181hg19UCSC Ensembl
chr12:70642884..70644448hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381565
hg191565
hg181565
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1137133
Supporting Variants
SamplesHuRef
Known GenesTPH2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4166864
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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