A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1623218



Internal ID12439652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:676754..676754hg38UCSC Ensembl
chr6:676754..676754hg19UCSC Ensembl
chr6:621754..621754hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3915536
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1623218
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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