A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12559652



Internal ID4274170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134735388..134769255hg38UCSC Ensembl
Innerchr6:134735888..134768755hg38UCSC Ensembl
Outerchr6:134734388..134770255hg38UCSC Ensembl
chr6:135056526..135090393hg19UCSC Ensembl
Innerchr6:135057026..135089893hg19UCSC Ensembl
Outerchr6:135055526..135091393hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3833868
hg1933868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610883
Supporting Variants
SamplesHG03838
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12559652
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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