A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12505673



Internal ID5374999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112101402..112103284hg38UCSC Ensembl
Innerchr6:112101402..112103284hg38UCSC Ensembl
Outerchr6:112101158..112103472hg38UCSC Ensembl
chr6:112422605..112424487hg19UCSC Ensembl
Innerchr6:112422605..112424487hg19UCSC Ensembl
Outerchr6:112422361..112424675hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381883
hg191883
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610388
Supporting Variants
SamplesNA18916
Known GenesFAM229B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12505673
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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