A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688541



Internal ID15012693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107462145..107463843hg38UCSC Ensembl
Innerchr12:107462843..107463145hg38UCSC Ensembl
Outerchr12:107461145..107464843hg38UCSC Ensembl
chr12:107855922..107857620hg19UCSC Ensembl
Innerchr12:107856620..107856922hg19UCSC Ensembl
Outerchr12:107854922..107858620hg19UCSC Ensembl
chr12:106380052..106381750hg18UCSC Ensembl
Innerchr12:106381052..106380750hg18UCSC Ensembl
Outerchr12:106379052..106382750hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364632
Supporting Variants
SamplesNA19238
Known GenesBTBD11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688541
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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