A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575251



Internal ID7046633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71963909..71964237hg38UCSC Ensembl
chr4:72829626..72829954hg19UCSC Ensembl
chr4:73048490..73048818hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995866
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575251
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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