A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12322520



Internal ID1157574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38213516..38224431hg38UCSC Ensembl
chr6:38181292..38192207hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3810916
hg1910916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608730
Supporting Variants
SamplesHG01046
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12322520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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