A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609819



Internal ID6996738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85663192..85664229hg38UCSC Ensembl
Innerchr6:85663200..85664222hg38UCSC Ensembl
Outerchr6:85663185..85664237hg38UCSC Ensembl
chr6:86372910..86373947hg19UCSC Ensembl
Innerchr6:86372918..86373940hg19UCSC Ensembl
Outerchr6:86372903..86373955hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12454845, essv12454850, essv12454844, essv12454857, essv12454843, essv12454855, essv12454846, essv12454848, essv12454851, essv12454849, essv12454852, essv12454858, essv12454853, essv12454842, essv12454847, essv12454841, essv12454854, essv12454856
SamplesHG01486, NA20517, HG01632, NA20589, HG00736, HG00346, HG01767, HG03947, NA12889, HG00731, NA20505, HG01390, HG01474, HG01260, HG01395, HG03600, NA20852, HG01097
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609819
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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