A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4288342



Internal ID11570880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240527778..240527778hg38UCSC Ensembl
chr2:241467195..241467195hg19UCSC Ensembl
chr2:241115868..241115868hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38526
hg19526
hg18526
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1184193
Supporting Variants
SamplesHuRef
Known GenesANKMY1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4288342
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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