A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12322524



Internal ID1157654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38213803..38221832hg38UCSC Ensembl
Innerchr6:38213868..38221767hg38UCSC Ensembl
Outerchr6:38213738..38221897hg38UCSC Ensembl
chr6:38181579..38189608hg19UCSC Ensembl
Innerchr6:38181644..38189543hg19UCSC Ensembl
Outerchr6:38181514..38189673hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg388030
hg198030
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608731
Supporting Variants
SamplesHG01046
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12322524
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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