A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9600080



Internal ID13617781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19877081..19877100hg38UCSC Ensembl
Innerchr2:19877077..19877104hg38UCSC Ensembl
Outerchr2:19877058..19877123hg38UCSC Ensembl
chr2:20076842..20076861hg19UCSC Ensembl
Innerchr2:20076838..20076865hg19UCSC Ensembl
Outerchr2:20076819..20076884hg19UCSC Ensembl
chr2:19940323..19940342hg18UCSC Ensembl
Innerchr2:19940346..19940319hg18UCSC Ensembl
Outerchr2:19940300..19940365hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3376794
Supporting Variants
SamplesNA12873
Known GenesLINC00954
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9600080
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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