A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691767



Internal ID13709427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120066115..120083026hg38UCSC Ensembl
Innerchr1:120067115..120082026hg38UCSC Ensembl
Outerchr1:120065115..120084026hg38UCSC Ensembl
chr1:120608729..120625627hg19UCSC Ensembl
Innerchr1:120609729..120624627hg19UCSC Ensembl
Outerchr1:120607729..120626627hg19UCSC Ensembl
chr1:120410252..120427150hg18UCSC Ensembl
Innerchr1:120411252..120426150hg18UCSC Ensembl
Outerchr1:120409252..120428150hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3816912
hg1916899
hg1816899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3329918
Supporting Variants
SamplesNA12891
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691767
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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