A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630581



Internal ID6670717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101871269..101882494hg38UCSC Ensembl
Innerchr12:101871769..101881994hg38UCSC Ensembl
Outerchr12:101870269..101883494hg38UCSC Ensembl
chr12:102265047..102276272hg19UCSC Ensembl
Innerchr12:102265547..102275772hg19UCSC Ensembl
Outerchr12:102264047..102277272hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3811226
hg1911226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14590811
SamplesHG01506
Known GenesDRAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630581
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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