A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1527047



Internal ID12343483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30030719..30030719hg38UCSC Ensembl
chr6:29998496..29998496hg19UCSC Ensembl
chr6:30106475..30106475hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38331
hg19331
hg18331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4074788
SamplesHuRef
Known GenesZNRD1-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1527047
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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