A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651860



Internal ID15100232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6362496..6362991hg38UCSC Ensembl
Innerchr12:6362496..6362991hg38UCSC Ensembl
Outerchr12:6362370..6363113hg38UCSC Ensembl
chr12:6471662..6472157hg19UCSC Ensembl
Innerchr12:6471662..6472157hg19UCSC Ensembl
Outerchr12:6471536..6472279hg19UCSC Ensembl
chr12:6341923..6342418hg18UCSC Ensembl
Innerchr12:6341923..6342418hg18UCSC Ensembl
Outerchr12:6341797..6342540hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38496
hg19496
hg18496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3358588
Supporting Variants
SamplesNA19240
Known GenesSCNN1A
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651860
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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