A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12447585



Internal ID6163740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:78948222..78950114hg38UCSC Ensembl
Innerchr6:78948222..78950114hg38UCSC Ensembl
Outerchr6:78948030..78950328hg38UCSC Ensembl
chr6:79657939..79659831hg19UCSC Ensembl
Innerchr6:79657939..79659831hg19UCSC Ensembl
Outerchr6:79657747..79660045hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381893
hg191893
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609676
Supporting Variants
SamplesNA19704
Known GenesPHIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12447585
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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