A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12322529



Internal ID6905942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38234936..38266914hg38UCSC Ensembl
chr6:38202712..38234690hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3831979
hg1931979
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608734
Supporting Variants
SamplesNA21111
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12322529
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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