A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609683



Internal ID6996603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79177883..79181757hg38UCSC Ensembl
Innerchr6:79177885..79181755hg38UCSC Ensembl
Outerchr6:79177881..79181759hg38UCSC Ensembl
chr6:79887600..79891474hg19UCSC Ensembl
Innerchr6:79887602..79891472hg19UCSC Ensembl
Outerchr6:79887598..79891476hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383875
hg193875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12447980, essv12447978, essv12447962, essv12447973, essv12447976, essv12447966, essv12447971, essv12447981, essv12447965, essv12447964, essv12447963, essv12447967, essv12447974, essv12447977, essv12447968, essv12447970, essv12447972, essv12447969, essv12447975, essv12447979
SamplesNA20766, HG04229, HG03792, HG03706, HG03705, HG03754, HG04206, HG03978, HG04033, HG03803, HG03696, HG03780, HG02731, NA21118, NA21142, HG04200, HG03720, HG03866, HG04080, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609683
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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