A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12527187



Internal ID4392892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:122639341..122665870hg38UCSC Ensembl
Innerchr6:122639344..122665867hg38UCSC Ensembl
Outerchr6:122639338..122665873hg38UCSC Ensembl
chr6:122960486..122987015hg19UCSC Ensembl
Innerchr6:122960489..122987012hg19UCSC Ensembl
Outerchr6:122960483..122987018hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3826530
hg1926530
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610615
Supporting Variants
SamplesHG03914
Known GenesPKIB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12527187
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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