A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865590



Internal ID13317956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70928804..70928818hg38UCSC Ensembl
Innerchr12:70928779..70928843hg38UCSC Ensembl
Outerchr12:70928765..70928857hg38UCSC Ensembl
chr12:71322584..71322598hg19UCSC Ensembl
Innerchr12:71322559..71322623hg19UCSC Ensembl
Outerchr12:71322545..71322637hg19UCSC Ensembl
chr12:69608851..69608865hg18UCSC Ensembl
Innerchr12:69608890..69608826hg18UCSC Ensembl
Outerchr12:69608812..69608904hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380956
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865590
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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