A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576226



Internal ID6845146
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611119
Supporting Variants
SamplesNA20911
Known GenesUTRN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576226
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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