A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631025



Internal ID7017839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124845109..124847013hg38UCSC Ensembl
Innerchr12:124845116..124847006hg38UCSC Ensembl
Outerchr12:124845102..124847020hg38UCSC Ensembl
chr12:125329655..125331559hg19UCSC Ensembl
Innerchr12:125329662..125331552hg19UCSC Ensembl
Outerchr12:125329648..125331566hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381905
hg191905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14623664, essv14623663
SamplesHG01571, HG02003
Known GenesSCARB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631025
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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