A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692409



Internal ID15032295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7567505..7569803hg38UCSC Ensembl
Innerchr1:7568505..7568803hg38UCSC Ensembl
Outerchr1:7566505..7570803hg38UCSC Ensembl
chr1:7627565..7629863hg19UCSC Ensembl
Innerchr1:7628565..7628863hg19UCSC Ensembl
Outerchr1:7626565..7630863hg19UCSC Ensembl
chr1:7550152..7552450hg18UCSC Ensembl
Innerchr1:7551152..7551450hg18UCSC Ensembl
Outerchr1:7549152..7553450hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418027
Supporting Variants
SamplesNA19238
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692409
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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