A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630455



Internal ID7017273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96582022..96583533hg38UCSC Ensembl
Innerchr12:96582024..96583532hg38UCSC Ensembl
Outerchr12:96582021..96583535hg38UCSC Ensembl
chr12:96975800..96977311hg19UCSC Ensembl
Innerchr12:96975802..96977310hg19UCSC Ensembl
Outerchr12:96975799..96977313hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381512
hg191512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14579282, essv14579283
SamplesHG02614, HG02462
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630455
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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