A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4357321



Internal ID11293173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141414080..141414399hg38UCSC Ensembl
chr7:141113880..141114199hg19UCSC Ensembl
chr7:140760349..140760668hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38320
hg19320
hg18320
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1753264
Supporting Variants
SamplesHuRef
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4357321
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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