A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611119



Internal ID6998030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144812917..144818121hg38UCSC Ensembl
Innerchr6:144812917..144818121hg38UCSC Ensembl
Outerchr6:144812813..144818213hg38UCSC Ensembl
chr6:145134053..145139257hg19UCSC Ensembl
Innerchr6:145134053..145139257hg19UCSC Ensembl
Outerchr6:145133949..145139349hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg385205
hg195205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12576225, essv12576224, essv12576223, essv12576226
SamplesNA20911, HG03802, HG02682, HG03864
Known GenesUTRN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611119
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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