A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12621446



Internal ID2623262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162478245..162499351hg38UCSC Ensembl
Innerchr6:162478745..162498851hg38UCSC Ensembl
Outerchr6:162477245..162500351hg38UCSC Ensembl
chr6:162899277..162920383hg19UCSC Ensembl
Innerchr6:162899777..162919883hg19UCSC Ensembl
Outerchr6:162898277..162921383hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3821107
hg1921107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611538
Supporting Variants
SamplesHG02182
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12621446
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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