A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608739



Internal ID6995663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38431586..38524269hg38UCSC Ensembl
Innerchr6:38431586..38524269hg38UCSC Ensembl
Outerchr6:38431086..38524769hg38UCSC Ensembl
chr6:38399362..38492045hg19UCSC Ensembl
Innerchr6:38399362..38492045hg19UCSC Ensembl
Outerchr6:38398862..38492545hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3892684
hg1992684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12322577
SamplesNA21111
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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