A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630751



Internal ID6670885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111245504..111246288hg38UCSC Ensembl
Innerchr12:111245512..111246280hg38UCSC Ensembl
Outerchr12:111245496..111246296hg38UCSC Ensembl
chr12:111683308..111684092hg19UCSC Ensembl
Innerchr12:111683316..111684084hg19UCSC Ensembl
Outerchr12:111683300..111684100hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604209
SamplesHG02537
Known GenesCUX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630751
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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