A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411748



Internal ID14912021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56774263..56774263hg38UCSC Ensembl
Innerchr1:56774262..56774264hg38UCSC Ensembl
Outerchr1:56774213..56774313hg38UCSC Ensembl
chr1:57239936..57239936hg19UCSC Ensembl
Innerchr1:57239935..57239937hg19UCSC Ensembl
Outerchr1:57239886..57239986hg19UCSC Ensembl
chr1:57012524..57012524hg18UCSC Ensembl
Innerchr1:57012525..57012523hg18UCSC Ensembl
Outerchr1:57012474..57012574hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653239, essv8653240, essv8653242
SamplesNA19239, NA19238, NA19240
Known GenesC1orf168
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411748
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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