A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625372



Internal ID7012206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:11279702..11284827hg38UCSC Ensembl
Innerchr11:11280202..11284327hg38UCSC Ensembl
Outerchr11:11278702..11285827hg38UCSC Ensembl
chr11:11301249..11306374hg19UCSC Ensembl
Innerchr11:11301749..11305874hg19UCSC Ensembl
Outerchr11:11300249..11307374hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg385126
hg195126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14029136, essv14029134, essv14029131, essv14029137, essv14029132, essv14029133, essv14029138, essv14029139, essv14029130, essv14029135
SamplesNA19914, NA19171, NA19209, NA19921, NA18915, NA19035, NA18909, NA19360, NA18501, HG02861
Known GenesGALNT18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625372
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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