A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688573



Internal ID15044811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120994866..120996664hg38UCSC Ensembl
Innerchr12:120995664..120995866hg38UCSC Ensembl
Outerchr12:120993866..120997664hg38UCSC Ensembl
chr12:121432669..121434467hg19UCSC Ensembl
Innerchr12:121433467..121433669hg19UCSC Ensembl
Outerchr12:121431669..121435467hg19UCSC Ensembl
chr12:119917052..119918850hg18UCSC Ensembl
Innerchr12:119918052..119917850hg18UCSC Ensembl
Outerchr12:119916052..119919850hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434592
Supporting Variants
SamplesNA19239
Known GenesHNF1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688573
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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