A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422946



Internal ID14923218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96182589..96182608hg38UCSC Ensembl
Innerchr13:96182585..96182612hg38UCSC Ensembl
Outerchr13:96182566..96182631hg38UCSC Ensembl
chr13:96834843..96834862hg19UCSC Ensembl
Innerchr13:96834839..96834866hg19UCSC Ensembl
Outerchr13:96834820..96834885hg19UCSC Ensembl
chr13:95632844..95632863hg18UCSC Ensembl
Innerchr13:95632867..95632840hg18UCSC Ensembl
Outerchr13:95632821..95632886hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9663436
SamplesNA19143
Known GenesHS6ST3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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