A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1453362



Internal ID12616484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102315112..102315112hg38UCSC Ensembl
chr7:101955578..101955578hg19UCSC Ensembl
chr7:101742298..101742298hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382814
hg192814
hg182814
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3659048
SamplesHuRef
Known GenesSH2B2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1453362
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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