A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448182



Internal ID15295131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7103405..7104503hg38UCSC Ensembl
Innerchr1:7103503..7104405hg38UCSC Ensembl
Outerchr1:7102405..7105503hg38UCSC Ensembl
chr1:7163465..7164563hg19UCSC Ensembl
Innerchr1:7163563..7164465hg19UCSC Ensembl
Outerchr1:7162465..7165563hg19UCSC Ensembl
chr1:7086052..7087150hg18UCSC Ensembl
Innerchr1:7087052..7086150hg18UCSC Ensembl
Outerchr1:7085052..7088150hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33e59
Supporting Variantsessv8692403
SamplesNA19239
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448182
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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