A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499509



Internal ID2501325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108060849..108071102hg38UCSC Ensembl
Innerchr6:108061349..108070602hg38UCSC Ensembl
Outerchr6:108059849..108072102hg38UCSC Ensembl
chr6:108382053..108392306hg19UCSC Ensembl
Innerchr6:108382553..108391806hg19UCSC Ensembl
Outerchr6:108381053..108393306hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3810254
hg1910254
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610308
Supporting Variants
SamplesHG02601
Known GenesOSTM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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