A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628509



Internal ID6668652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9603613..9613864hg38UCSC Ensembl
Innerchr12:9604113..9613364hg38UCSC Ensembl
Outerchr12:9602613..9614864hg38UCSC Ensembl
chr12:9756209..9766460hg19UCSC Ensembl
Innerchr12:9756709..9765960hg19UCSC Ensembl
Outerchr12:9755209..9767460hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810252
hg1910252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14370889, essv14370888
SamplesNA12413, NA20339
Known GenesKLRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628509
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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