A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691761



Internal ID15030259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119989206..120000004hg38UCSC Ensembl
Innerchr1:119990206..119999004hg38UCSC Ensembl
Outerchr1:119988206..120001004hg38UCSC Ensembl
chr1:120531829..120542627hg19UCSC Ensembl
Innerchr1:120532829..120541627hg19UCSC Ensembl
Outerchr1:120530829..120543627hg19UCSC Ensembl
chr1:120333352..120344150hg18UCSC Ensembl
Innerchr1:120334352..120343150hg18UCSC Ensembl
Outerchr1:120332352..120345150hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3810799
hg1910799
hg1810799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3323973
Supporting Variants
SamplesNA19238
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691761
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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