A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499714



Internal ID3748540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108889246..108890422hg38UCSC Ensembl
Innerchr6:108889296..108890193hg38UCSC Ensembl
Outerchr6:108889142..108890526hg38UCSC Ensembl
chr6:109210449..109211625hg19UCSC Ensembl
Innerchr6:109210499..109211396hg19UCSC Ensembl
Outerchr6:109210345..109211729hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610328
Supporting Variants
SamplesHG03380
Known GenesARMC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499714
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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