A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12322518



Internal ID3914261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38157416..38159622hg38UCSC Ensembl
Innerchr6:38157423..38159616hg38UCSC Ensembl
Outerchr6:38157410..38159629hg38UCSC Ensembl
chr6:38125192..38127398hg19UCSC Ensembl
Innerchr6:38125199..38127392hg19UCSC Ensembl
Outerchr6:38125186..38127405hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382207
hg192207
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608728
Supporting Variants
SamplesHG03567
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12322518
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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