A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631120



Internal ID7017935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127699100..127702546hg38UCSC Ensembl
Innerchr12:127699100..127702546hg38UCSC Ensembl
Outerchr12:127699027..127702623hg38UCSC Ensembl
chr12:128183645..128187091hg19UCSC Ensembl
Innerchr12:128183645..128187091hg19UCSC Ensembl
Outerchr12:128183572..128187168hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383447
hg193447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14629373
SamplesNA20809
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631120
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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