A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865555



Internal ID12971247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23963998..23964006hg38UCSC Ensembl
Innerchr12:23963981..23964023hg38UCSC Ensembl
Outerchr12:23963973..23964031hg38UCSC Ensembl
chr12:24116932..24116940hg19UCSC Ensembl
Innerchr12:24116915..24116957hg19UCSC Ensembl
Outerchr12:24116907..24116965hg19UCSC Ensembl
chr12:24008199..24008207hg18UCSC Ensembl
Innerchr12:24008224..24008182hg18UCSC Ensembl
Outerchr12:24008174..24008232hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3402812
Supporting Variants
SamplesNA12005
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865555
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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