A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12345029



Internal ID6559832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49863374..49932322hg38UCSC Ensembl
chr6:49831087..49900035hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3868949
hg1968949
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608953
Supporting Variants
SamplesNA20756
Known GenesCRISP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12345029
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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