A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413631



Internal ID15260590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7567805..7569903hg38UCSC Ensembl
Innerchr1:7568805..7568903hg38UCSC Ensembl
Outerchr1:7566805..7570903hg38UCSC Ensembl
chr1:7627865..7629963hg19UCSC Ensembl
Innerchr1:7628865..7628963hg19UCSC Ensembl
Outerchr1:7626865..7630963hg19UCSC Ensembl
chr1:7550452..7552550hg18UCSC Ensembl
Innerchr1:7551452..7551550hg18UCSC Ensembl
Outerchr1:7549452..7553550hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e59
Supporting Variantsessv8692410
SamplesNA19239
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413631
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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