A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439401



Internal ID15286354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7103105..7104403hg38UCSC Ensembl
Innerchr1:7103403..7104105hg38UCSC Ensembl
Outerchr1:7102105..7105403hg38UCSC Ensembl
chr1:7163165..7164463hg19UCSC Ensembl
Innerchr1:7163463..7164165hg19UCSC Ensembl
Outerchr1:7162165..7165463hg19UCSC Ensembl
chr1:7085752..7087050hg18UCSC Ensembl
Innerchr1:7086752..7086050hg18UCSC Ensembl
Outerchr1:7084752..7088050hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33e59
Supporting Variantsessv8692401
SamplesNA19240
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439401
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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