A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12182913



Internal ID1662346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7063448..7069570hg38UCSC Ensembl
Innerchr6:7063476..7069542hg38UCSC Ensembl
Outerchr6:7063420..7069598hg38UCSC Ensembl
chr6:7063681..7069803hg19UCSC Ensembl
Innerchr6:7063709..7069775hg19UCSC Ensembl
Outerchr6:7063653..7069831hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg386123
hg196123
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608003
Supporting Variants
SamplesHG01525
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12182913
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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