A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12322526



Internal ID2302678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38216894..38219871hg38UCSC Ensembl
Innerchr6:38216894..38219871hg38UCSC Ensembl
Outerchr6:38216679..38220098hg38UCSC Ensembl
chr6:38184670..38187647hg19UCSC Ensembl
Innerchr6:38184670..38187647hg19UCSC Ensembl
Outerchr6:38184455..38187874hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382978
hg192978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608732
Supporting Variants
SamplesHG02053
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12322526
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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