A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670136



Internal ID9936241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:139280179..139286385hg38UCSC Ensembl
Outerchr6:139279808..139286755hg38UCSC Ensembl
Innerchr6:139601316..139607522hg19UCSC Ensembl
Outerchr6:139600945..139607892hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg386948
hg196948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6076981, essv6387840, essv5735436, essv5399337, essv6460797, essv5458064, essv6048629, essv6302532, essv6578764, essv6440306, essv6577029, essv6560138, essv5889865, essv6332087, essv5618580, essv6154642, essv6141757
SamplesNA10851, NA11933, NA11931, NA12004, NA12058, NA12400, NA12155, NA12341, NA12287, NA11930, NA12275, NA11993, NA11919, NA11893, NA12249, NA12144, NA12716
Known GenesTXLNB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670136
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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