A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609817



Internal ID6650045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85550099..85553642hg38UCSC Ensembl
Innerchr6:85550172..85553570hg38UCSC Ensembl
Outerchr6:85550027..85553715hg38UCSC Ensembl
chr6:86259817..86263360hg19UCSC Ensembl
Innerchr6:86259890..86263288hg19UCSC Ensembl
Outerchr6:86259745..86263433hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg383544
hg193544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12454839
SamplesNA18530
Known GenesSNX14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609817
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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