A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12344708



Internal ID5799959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49313970..49327410hg38UCSC Ensembl
Innerchr6:49313986..49327395hg38UCSC Ensembl
Outerchr6:49313955..49327426hg38UCSC Ensembl
chr6:49281639..49295078hg19UCSC Ensembl
Innerchr6:49281655..49295063hg19UCSC Ensembl
Outerchr6:49281624..49295094hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3813441
hg1913440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608944
Supporting Variants
SamplesNA19172
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12344708
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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