A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628848



Internal ID7015670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23514364..23522355hg38UCSC Ensembl
Innerchr12:23514379..23522341hg38UCSC Ensembl
Outerchr12:23514350..23522370hg38UCSC Ensembl
chr12:23667298..23675289hg19UCSC Ensembl
Innerchr12:23667313..23675275hg19UCSC Ensembl
Outerchr12:23667284..23675304hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387992
hg197992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410203, essv14410205, essv14410204
SamplesHG01054, HG01080, HG01104
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628848
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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