A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14623663



Internal ID1693407
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631025
Supporting Variants
SamplesHG01571
Known GenesSCARB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14623663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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