A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691766



Internal ID15030277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120012006..120068613hg38UCSC Ensembl
Innerchr1:120013006..120067613hg38UCSC Ensembl
Outerchr1:120011006..120069613hg38UCSC Ensembl
chr1:120554629..120611227hg19UCSC Ensembl
Innerchr1:120555629..120610227hg19UCSC Ensembl
Outerchr1:120553629..120612227hg19UCSC Ensembl
chr1:120356152..120412750hg18UCSC Ensembl
Innerchr1:120357152..120411750hg18UCSC Ensembl
Outerchr1:120355152..120413750hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3856608
hg1956599
hg1856599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3413453
Supporting Variants
SamplesNA19238
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691766
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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