A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12505696



Internal ID6631997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112495141..112500390hg38UCSC Ensembl
Innerchr6:112495141..112500390hg38UCSC Ensembl
Outerchr6:112494641..112500890hg38UCSC Ensembl
chr6:112816343..112821592hg19UCSC Ensembl
Innerchr6:112816343..112821592hg19UCSC Ensembl
Outerchr6:112815843..112822092hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385250
hg195250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610396
Supporting Variants
SamplesNA20795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12505696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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