A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692396



Internal ID14720761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6149005..6150303hg38UCSC Ensembl
Innerchr1:6149303..6150005hg38UCSC Ensembl
Outerchr1:6148005..6151303hg38UCSC Ensembl
chr1:6209065..6210363hg19UCSC Ensembl
Innerchr1:6209363..6210065hg19UCSC Ensembl
Outerchr1:6208065..6211363hg19UCSC Ensembl
chr1:6131652..6132950hg18UCSC Ensembl
Innerchr1:6132652..6131950hg18UCSC Ensembl
Outerchr1:6130652..6133950hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3383496
Supporting Variants
SamplesNA19239
Known GenesCHD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692396
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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