A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1123331



Internal ID12286454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122853402..122853557hg38UCSC Ensembl
chr12:123337949..123338104hg19UCSC Ensembl
chr12:121903902..121904057hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38156
hg19156
hg18156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3996786
SamplesHuRef
Known GenesHIP1R
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1123331
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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