A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993949



Internal ID7062744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84080549..84080874hg38UCSC Ensembl
chr7:83709865..83710190hg19UCSC Ensembl
chr7:83547801..83548126hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38326
hg19326
hg18326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3582584
SamplesHuRef
Known GenesSEMA3A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993949
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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