A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608123



Internal ID6995053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13335491..13336988hg38UCSC Ensembl
Innerchr6:13335491..13336988hg38UCSC Ensembl
Outerchr6:13335217..13337224hg38UCSC Ensembl
chr6:13335723..13337220hg19UCSC Ensembl
Innerchr6:13335723..13337220hg19UCSC Ensembl
Outerchr6:13335449..13337456hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381498
hg191498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12190874, essv12190876, essv12190882, essv12190865, essv12190880, essv12190873, essv12190878, essv12190869, essv12190870, essv12190877, essv12190866, essv12190881, essv12190879, essv12190871, essv12190875, essv12190872, essv12190868, essv12190867
SamplesHG03857, HG04060, HG03616, HG03235, HG04100, HG03490, HG03917, HG03902, HG03780, NA20885, HG02724, HG02725, HG03692, HG04023, HG03789, HG04171, NA20886, HG03931
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608123
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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