A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12410896



Internal ID6438720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69753267..69760960hg38UCSC Ensembl
Innerchr6:69753297..69760931hg38UCSC Ensembl
Outerchr6:69753238..69760990hg38UCSC Ensembl
chr6:70463159..70470852hg19UCSC Ensembl
Innerchr6:70463189..70470823hg19UCSC Ensembl
Outerchr6:70463130..70470882hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg387694
hg197694
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609422
Supporting Variants
SamplesNA20508
Known GenesLMBRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12410896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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