A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991612



Internal ID7077401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7230624..7230688hg38UCSC Ensembl
chr4:7232351..7232415hg19UCSC Ensembl
chr4:7283252..7283316hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573149
SamplesHuRef
Known GenesSORCS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991612
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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