A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7768217



Internal ID13616397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47000812..47000813hg38UCSC Ensembl
Innerchr3:47000790..47000835hg38UCSC Ensembl
Outerchr3:47000789..47000836hg38UCSC Ensembl
chr3:47042302..47042303hg19UCSC Ensembl
Innerchr3:47042280..47042325hg19UCSC Ensembl
Outerchr3:47042279..47042326hg19UCSC Ensembl
chr3:47017306..47017307hg18UCSC Ensembl
Innerchr3:47017329..47017284hg18UCSC Ensembl
Outerchr3:47017283..47017330hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384869
hg194869
hg184869
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303281
Supporting Variants
SamplesNA12872
Known GenesNBEAL2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7768217
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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