A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608021



Internal ID6994952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7937719..7958157hg38UCSC Ensembl
Innerchr6:7937869..7958007hg38UCSC Ensembl
Outerchr6:7937569..7958307hg38UCSC Ensembl
chr6:7937952..7958390hg19UCSC Ensembl
Innerchr6:7938102..7958240hg19UCSC Ensembl
Outerchr6:7937802..7958540hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3820439
hg1920439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12183119
SamplesHG03685
Known GenesBLOC1S5-TXNDC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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