A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327085



Internal ID14827365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172798640..172798670hg38UCSC Ensembl
Innerchr2:172798654..172798654hg38UCSC Ensembl
Outerchr2:172798626..172798684hg38UCSC Ensembl
chr2:173663368..173663398hg19UCSC Ensembl
Innerchr2:173663382..173663382hg19UCSC Ensembl
Outerchr2:173663354..173663412hg19UCSC Ensembl
chr2:173371614..173371644hg18UCSC Ensembl
Innerchr2:173371628..173371628hg18UCSC Ensembl
Outerchr2:173371600..173371658hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909443, essv8909439, essv8909440, essv8909449, essv8909441, essv8909437, essv8909444, essv8909445, essv8909450, essv8909442, essv8909446, essv8909433, essv8909438, essv8909435, essv8909434
SamplesNA12717, NA18947, NA18592, NA18508, NA11931, NA12751, NA12004, NA18563, NA18948, NA18907, NA18570, NA18517, NA12763, NA12749, NA18562
Known GenesRAPGEF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327085
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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