A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6357808



Internal ID9335211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101882338..101883744hg38UCSC Ensembl
Outerchr12:101881967..101884114hg38UCSC Ensembl
Innerchr12:102276116..102277522hg19UCSC Ensembl
Outerchr12:102275745..102277892hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382148
hg192148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665303
Supporting Variants
SamplesNA19054
Known GenesDRAM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6357808
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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