A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610957



Internal ID6651182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138439742..138440623hg38UCSC Ensembl
Innerchr6:138439746..138440620hg38UCSC Ensembl
Outerchr6:138439739..138440627hg38UCSC Ensembl
chr6:138760879..138761760hg19UCSC Ensembl
Innerchr6:138760883..138761757hg19UCSC Ensembl
Outerchr6:138760876..138761764hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38882
hg19882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12565677, essv12565671, essv12565676, essv12565668, essv12565674, essv12565673, essv12565678, essv12565679, essv12565667, essv12565669, essv12565675, essv12565672, essv12565670
SamplesHG03057, HG03577, NA19448, NA19023, NA19456, HG02678, HG03085, NA18879, NA19113, HG02594, NA19324, NA19143, HG03279
Known GenesNHSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610957
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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