A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609438



Internal ID6649668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70436013..70439050hg38UCSC Ensembl
Innerchr6:70436063..70439000hg38UCSC Ensembl
Outerchr6:70435963..70439100hg38UCSC Ensembl
chr6:71145716..71148753hg19UCSC Ensembl
Innerchr6:71145766..71148703hg19UCSC Ensembl
Outerchr6:71145666..71148803hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383038
hg193038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12411302, essv12411303
SamplesHG03968, HG03740
Known GenesFAM135A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609438
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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