A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1206912



Internal ID12370035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44588947..44589033hg38UCSC Ensembl
chr2:44816086..44816172hg19UCSC Ensembl
chr2:44669590..44669676hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4250558
SamplesHuRef
Known GenesCAMKMT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1206912
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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