A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1724578



Internal ID12887696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73632203..73632203hg38UCSC Ensembl
chr6:74341926..74341926hg19UCSC Ensembl
chr6:74398647..74398647hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4237307
SamplesHuRef
Known GenesSLC17A5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1724578
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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