A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8813758



Internal ID13293427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32177722..32177722hg38UCSC Ensembl
Innerchr12:32177721..32177723hg38UCSC Ensembl
Outerchr12:32177662..32177772hg38UCSC Ensembl
chr12:32330656..32330656hg19UCSC Ensembl
Innerchr12:32330655..32330657hg19UCSC Ensembl
Outerchr12:32330596..32330706hg19UCSC Ensembl
chr12:32221923..32221923hg18UCSC Ensembl
Innerchr12:32221924..32221922hg18UCSC Ensembl
Outerchr12:32221863..32221973hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3368723
Supporting Variants
SamplesNA12878
Known GenesBICD1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8813758
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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