A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232823



Internal ID2234639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26368701..26405919hg38UCSC Ensembl
chr6:26368929..26406147hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3837219
hg1937219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608403
Supporting Variants
SamplesHG02127
Known GenesBTN2A2, BTN3A1, BTN3A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232823
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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