A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12188393



Internal ID2190209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10520017..10533330hg38UCSC Ensembl
Innerchr6:10520517..10532830hg38UCSC Ensembl
Outerchr6:10519017..10534330hg38UCSC Ensembl
chr6:10520250..10533563hg19UCSC Ensembl
Innerchr6:10520750..10533063hg19UCSC Ensembl
Outerchr6:10519250..10534563hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3813314
hg1913314
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608074
Supporting Variants
SamplesHG02292
Known GenesGCNT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12188393
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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