A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863681



Internal ID12969428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23045673..23045681hg38UCSC Ensembl
Innerchr1:23045675..23045679hg38UCSC Ensembl
Outerchr1:23045671..23045683hg38UCSC Ensembl
chr1:23372166..23372174hg19UCSC Ensembl
Innerchr1:23372168..23372172hg19UCSC Ensembl
Outerchr1:23372164..23372176hg19UCSC Ensembl
chr1:23244753..23244761hg18UCSC Ensembl
Innerchr1:23244755..23244759hg18UCSC Ensembl
Outerchr1:23244751..23244763hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425192
Supporting Variants
SamplesNA12005
Known GenesKDM1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863681
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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