A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1055449



Internal ID11871888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209435996..209435996hg38UCSC Ensembl
chr2:210300720..210300720hg19UCSC Ensembl
chr2:210008965..210008965hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3928599
SamplesHuRef
Known GenesMAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1055449
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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