A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7839440



Internal ID13620504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47740518..47740519hg38UCSC Ensembl
Innerchr6:47740496..47740541hg38UCSC Ensembl
Outerchr6:47740495..47740542hg38UCSC Ensembl
chr6:47708254..47708255hg19UCSC Ensembl
Innerchr6:47708232..47708277hg19UCSC Ensembl
Outerchr6:47708231..47708278hg19UCSC Ensembl
chr6:47816213..47816214hg18UCSC Ensembl
Innerchr6:47816236..47816191hg18UCSC Ensembl
Outerchr6:47816190..47816237hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310197
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7839440
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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