A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1714082



Internal ID5844182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:225470..225589hg38UCSC Ensembl
chr7:225470..225589hg19UCSC Ensembl
chr7:320553..320672hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38120
hg19120
hg18120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4249440
SamplesHuRef
Known GenesFAM20C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1714082
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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