A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1423203



Internal ID12586325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99959623..99959623hg38UCSC Ensembl
chr6:100407499..100407499hg19UCSC Ensembl
chr6:100514220..100514220hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3764433
SamplesHuRef
Known GenesMCHR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1423203
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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