A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630960



Internal ID6671093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121869674..121870748hg38UCSC Ensembl
Innerchr12:121869704..121870718hg38UCSC Ensembl
Outerchr12:121869644..121870778hg38UCSC Ensembl
chr12:122307580..122308654hg19UCSC Ensembl
Innerchr12:122307610..122308624hg19UCSC Ensembl
Outerchr12:122307550..122308684hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381075
hg191075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14619940
SamplesHG02462
Known GenesHPD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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