A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608780



Internal ID6995704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40762645..40769060hg38UCSC Ensembl
Innerchr6:40762645..40769060hg38UCSC Ensembl
Outerchr6:40762375..40769206hg38UCSC Ensembl
chr6:40730384..40736799hg19UCSC Ensembl
Innerchr6:40730384..40736799hg19UCSC Ensembl
Outerchr6:40730114..40736945hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386416
hg196416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12326853, essv12326854
SamplesHG02772, HG02813
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608780
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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