A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920829



Internal ID3852230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42545707..42568957hg38UCSC Ensembl
chr1:43011378..43034628hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3823251
hg1923251
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585850
Supporting Variants
SamplesHG03485
Known GenesCCDC30
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920829
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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