A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564371



Internal ID7035471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55216049..55218126hg38UCSC Ensembl
Outerchr7:55283742..55285819hg19UCSC Ensembl
Outerchr7:55251236..55253313hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg382078
hg192078
hg182078
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009523
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564371
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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