A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611483



Internal ID6651701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161963891..161966429hg38UCSC Ensembl
Innerchr6:161963892..161966428hg38UCSC Ensembl
Outerchr6:161963890..161966430hg38UCSC Ensembl
chr6:162384923..162387461hg19UCSC Ensembl
Innerchr6:162384924..162387460hg19UCSC Ensembl
Outerchr6:162384922..162387462hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg382539
hg192539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12620197, essv12620191, essv12620193, essv12620202, essv12620200, essv12620188, essv12620207, essv12620190, essv12620203, essv12620195, essv12620187, essv12620199, essv12620192, essv12620209, essv12620204, essv12620205, essv12620208, essv12620198, essv12620206, essv12620196, essv12620201, essv12620186, essv12620189, essv12620185, essv12620194
SamplesHG02470, NA19152, HG03064, NA19223, HG01883, NA19461, HG02760, HG03548, HG02323, HG03380, HG03199, HG02433, HG03461, NA19239, NA19917, HG02012, NA18856, HG03190, HG02054, HG03433, HG03115, NA18907, NA19327, HG02891, NA18917
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611483
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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